Viewing single variant in MT-ATP6

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

MT-ATP6:m.8716A>TA (p.Lys64Ter)

Tutor Research

Nomenclaturem.8716A>TAp.Lys64TerchrMT:8715|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.

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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.8716A>TA

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ATP6:m.8716A>TA (p.Lys64Ter)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ATP6:m.8716A>TA (p.Lys64Ter)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources