Viewing single variant in MT-CO2

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

MT-CO2:m.8024G>A (p.Glu147Lys)

Tutor Research

Nomenclaturem.8024G>Ap.Glu147LyschrMT:8024|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

1 hom · 1 het

of 56,430 genomes

SIFT

deleterious_low_confidence (0.03)

PolyPhen

benign (0.003)

ESM1b

-5.06

Tutor Research

MITOMAPReported

Live entry

Disease: Bioenergetic deficiency with optic atrophyReported as: heteroplasmicGenBank: 1 sequence

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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ATCGAGTAGTACTCCCGATTGAAGCCCCCATTCGTATAATA

MT-CO2

m.8004–8044 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.8024 G→A.

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-CO2 →

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.8024G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-CO2:m.8024G>A (p.Glu147Lys)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-CO2:m.8024G>A (p.Glu147Lys)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources