Viewing single variant in MT-TL2

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-TL2:m.12299A>C

Tutor Research

Nomenclaturem.12299A>CchrMT:12299|ClinVar #2583104

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

MitoTIP

12.9 · Q2 possibly pathogenic

Tutor Research

ClinVarnot provided

VCV002583104

Review: no classification providedSubmitters: 1view ↗Last evaluated: 1/01/01 00:00

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)Reported as: heteroplasmicGenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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AACAGCTATCCATTGGTCTTAGGCCCCAAAAATTTTGGTGC

MT-TL2

m.12279–12319 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12299 A→C.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

Open Research Assistant for MT-TL2 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.12299A>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TL2:m.12299A>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TL2:m.12299A>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources