Viewing single variant in MT-TK

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

MT-TK:m.8302A>T

Tutor Research

Nomenclaturem.8302A>TchrMT:8302|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

MitoTIP

5.4 · Q4 likely benign

Tutor Research

MITOMAPUnclear

Live entry

Disease: EncephalopathyReported as: homoplasmicGenBank: 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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CCCCTCTAGAGCCCACTGTAAAGCTAACTTAGCATTAACCT

MT-TK · starts m.8295

m.8282–8322 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.8302 A→T.

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-TK →

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.8302A>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TK:m.8302A>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TK:m.8302A>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources