Viewing single variant in MT-TS2

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

MT-TS2:m.12224C>T

Tutor Research

Nomenclaturem.12224C>TchrMT:12224|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,433 genomes

MitoTIP

9.8 · Q3 possibly benign

PON-mt-tRNA

0.35 · likely neutral

Tutor Research

MITOMAPReported

Live entry

Disease: Maternally inherited or aminoglycoside-induced deafness (DEAF) helper mutationReported as: homoplasmicGenBank: 4 sequences

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

Where it sits in the mitochondrial genome

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

||||

ACCGAGAAAGCTCACAAGAACTGCTAACTCATGCCCCCATG

MT-TH · ends m.12206

MT-TS2 · starts m.12207

m.12204–12244 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12224 C→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-TS2 →

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.12224C>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS2:m.12224C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS2:m.12224C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources