NC_012920.1(MT-CO2):m.7896G>A AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010298.3

Allele description [Variation Report for NC_012920.1(MT-CO2):m.7896G>A]

NC_012920.1(MT-CO2):m.7896G>A

Gene:

MT-CO2:mitochondrially encoded cytochrome c oxidase II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CO2):m.7896G>A

HGVS:

NC_012920.1:m.7896G>A

Nucleotide change:

7896G-A

Links:

OMIM: 516040.0005; dbSNP: rs199474829

NCBI 1000 Genomes Browser:

rs199474829

Condition(s)

Name:: Mitochondrial complex IV deficiency, nuclear type 1
Synonyms:: COX DEFICIENCY; Mitochondrial complex IV deficiency; Complex 4 mitochondrial respiratory chain deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0700250; MedGen: C5435656; OMIM: 220110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030522	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030522

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

Campos Y, García-Redondo A, Fernández-Moreno MA, Martínez-Pardo M, Goda G, Rubio JC, Martín MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J.

Ann Neurol. 2001 Sep;50(3):409-13.

PubMed [citation]

PMID:: 11558799

Details of each submission

From OMIM, SCV000030522.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Campos et al. (2001) reported what they judged to be the first nonsense mutation in the MTCO2 gene. The 3-year-old proposita was normal at birth but had psychomotor delay and failure to thrive after age 3 months. In addition to early-onset hypotonia, there was mild hypertrophic cardiomyopathy and pigmentary retinopathy, and COX deficiency in muscle (220110). A 7896G-A nonsense mutation was found, predicted to cause premature termination of the translation, with loss of 123 amino acids at the C terminus of COX II. The mutation was heteroplasmic in muscle, blood, and fibroblasts of the patient.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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