Viewing single variant in MT-CYB

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

MT-CYB:m.15237T>C (p.Ile164Thr)

Tutor Research

Nomenclaturem.15237T>Cp.Ile164ThrchrMT:15237|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

4 hom · 3 het

of 56,426 genomes

SIFT

deleterious_low_confidence (0)

PolyPhen

possibly_damaging (0.899)

Tutor Research

MITOMAPReported

Live entry

Disease: Potentially functional variant cosegregating with Leber hereditary optic neuropathy (LHON)3635AReported as: homoplasmicGenBank: 7 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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GACAGACCTAGTTCAATGAATCTGAGGAGGCTACTCAGTAG

MT-CYB

m.15217–15257 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.15237 T→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-CYB →

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.15237T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-CYB:m.15237T>C (p.Ile164Thr)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-CYB:m.15237T>C (p.Ile164Thr)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources