MT-TL2

mitochondrially encoded tRNA-Leu (CUN) 2, the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:12266-12336

Previous symbols: [ "MTTL2" ]

Links

ENSG00000210191 ∙ NCBI:4568 ∙ OMIM:590055 ∙ HGNC:7491 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial disease (Definitive), mode of inheritance: Mitochondrial
• Leigh syndrome (Disputed Evidence), mode of inheritance: Mitochondrial

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-TL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TL2 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-TL2

This is a list of pathogenic ClinVar variants found in the MT-TL2 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-12271-T-C		Mitochondrial disease	Pathogenic (May 04, 2022)
M-12273-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-12276-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Likely pathogenic (Nov 30, 2022)
M-12278-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease • Diabetes-deafness syndrome maternally transmitted	Conflicting classifications of pathogenicity (Feb 19, 2024)
M-12279-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12279-A-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-12280-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12281-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12283-G-A		Mitochondrial disease	Pathogenic (May 22, 2017)
M-12285-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12291-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-12293-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (Jul 12, 2019)
M-12294-G-A		Mitochondrial disease	Uncertain significance (Oct 24, 2022)
M-12295-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12297-T-C		Cardiomyopathy, mitochondrial • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12299-A-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	not provided (-)
M-12302-C-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Mar 15, 2020)
M-12302-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-12305-C-CA		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12308-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Benign (Jan 10, 2022)
M-12311-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-12315-G-A		Mitochondrial encephalomyopathy • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Likely pathogenic (Nov 30, 2022)
M-12316-G-A		Mitochondrial disease	Uncertain significance (Feb 27, 2023)
M-12317-T-C		not specified	Uncertain significance (May 04, 2022)
M-12318-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

• Gene name: mt-Tl2