Viewing single variant in MT-ND2

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

MT-ND2:m.5001A>AA (p.Ile178AsnfsTer?)

Tutor Research

Nomenclaturem.5001A>AAp.Ile178AsnfsTer?chrMT:4998|Not in ClinVar

TypeFrameshift

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

Tutor Research

MITOMAPNot in MITOMAP’s disease table (as of 2026-10-07); it may have been added since.

Check MITOMAP

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)

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-ND2 →

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.5001A>AA

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND2:m.5001A>AA (p.Ile178AsnfsTer?)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND2:m.5001A>AA (p.Ile178AsnfsTer?)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources