NM_001303.4(COX10):c.612C>A (p.Asn204Lys) AND Mitochondrial complex 4 deficiency, nuclear type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2000
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:: RCV000007956.3

Allele description [Variation Report for NM_001303.4(COX10):c.612C>A (p.Asn204Lys)]

NM_001303.4(COX10):c.612C>A (p.Asn204Lys)

Gene:

COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_001303.4(COX10):c.612C>A (p.Asn204Lys)

HGVS:

NC_000017.11:g.14102230C>A
NG_008034.1:g.37829C>A
NM_001303.4:c.612C>AMANE SELECT
NP_001294.2:p.Asn204Lys
NC_000017.10:g.14005547C>A
Q12887:p.Asn204Lys

Protein change:

N204K; ASN204LYS

Links:

UniProtKB: Q12887#VAR_026563; OMIM: 602125.0001; dbSNP: rs104894560

NCBI 1000 Genomes Browser:

rs104894560

Molecular consequence:

NM_001303.4:c.612C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mitochondrial complex 4 deficiency, nuclear type 3
Synonyms:: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
Identifiers:: MONDO: MONDO:0033635; MedGen: C5436682; OMIM: 619046

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028161	OMIM	no assertion criteria provided	Pathogenic (May 1, 2000)	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

SCV000028161

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2000)

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

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rötig A.

Hum Mol Genet. 2000 May 1;9(8):1245-9.

PubMed [citation]

PMID:: 10767350

Details of each submission

From OMIM, SCV000028161.1

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

Description

In a boy with isolated cytochrome c oxidase deficiency (MC4DN3; 619046), who was born to first-cousin parents, Valnot et al. (2000) found a homozygous C-to-A transversion in exon 4 of the COX10 gene, corresponding to nucleotide position 612 of the cDNA. This transversion resulted in the change of an uncharged asparagine residue into a basic lysine residue (N204K). Both parents were heterozygous for the transversion.

#	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: Apr 23, 2022

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