Viewing single variant in MT-RNR2

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

MT-RNR2:m.2639C>A

Tutor Research

Nomenclaturem.2639C>AchrMT:2639|Not in ClinVar

Typemitochondrial rRNA variant

InheritanceMitochondrial

gnomAD mtDNA

4 hom · 0 het

of 56,433 genomes

Tutor Research

MITOMAPReported

Live entry

Disease: Rare mutation in a single POAG patientReported as: homoplasmicGenBank: 1 sequence

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)

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AGGGACCTGTATGAATGGCTCCACGAGGGTTCAGCTGTCTC

MT-RNR2

m.2619–2659 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.2639 C→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-RNR2 →

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.2639C>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-RNR2:m.2639C>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-RNR2:m.2639C>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources