NM_001358921.2(COQ2):c.440G>A (p.Arg147His) AND Coenzyme Q10 deficiency, primary 1

Clinical significance:Pathogenic (Last evaluated: Oct 12, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000001503.7

Allele description [Variation Report for NM_001358921.2(COQ2):c.440G>A (p.Arg147His)]

NM_001358921.2(COQ2):c.440G>A (p.Arg147His)

Gene:
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
HGVS:
  • NC_000004.12:g.83273598C>T
  • NG_015825.1:g.16317G>A
  • NM_001358921.2:c.440G>AMANE SELECT
  • NM_015697.9:c.590G>A
  • NP_001345850.1:p.Arg147His
  • NP_056512.5:p.Arg197His
  • NC_000004.11:g.84194751C>T
  • NM_015697.7:c.590G>A
Protein change:
R147H; ARG197HIS
Links:
OMIM: 609825.0003; dbSNP: rs121918231
NCBI 1000 Genomes Browser:
rs121918231
Molecular consequence:
  • NM_001358921.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015697.9:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Coenzyme Q10 deficiency, primary 1 (COQ10D1)
Synonyms:
UBIQUINONE DEFICIENCY 1; COENZYME Q DEFICIENCY 1; CoQ DEFICIENCY 1
Identifiers:
MONDO: MONDO:0011829; MedGen: C3551954; Orphanet: 255249; OMIM: 607426

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021658OMIMno assertion criteria providedPathogenic
(Oct 1, 2007)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000853125SingHealth Duke-NUS Institute of Precision Medicineno assertion criteria providedLikely pathogenic
(Jun 7, 2017)
germlinecuration

SCV000992726Baylor Geneticscriteria provided, single submitter
Pathogenic
(Oct 12, 2018)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001149745Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Jan 4, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M.

Am J Hum Genet. 2006 Feb;78(2):345-9. Epub 2005 Dec 22.

PubMed [citation]
PMID:
16400613
PMCID:
PMC1380241

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F.

J Am Soc Nephrol. 2007 Oct;18(10):2773-80. Epub 2007 Sep 12.

PubMed [citation]
PMID:
17855635
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000021658.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with coenzyme Q10 deficiency (607426) who presented with steroid-resistant nephrotic syndrome at age 18 months, Diomedi-Camassei et al. (2007) identified compound heterozygosity for 2 mutations in the COQ2 gene: a 590G-A transition resulting in an arg197-to-his (R197H) substitution on the maternal allele, and a 683A-G transition resulting in an asn228-to-ser (N228S; 609825.0004) substitution on the paternal allele. Neither mutation was found in 500 control chromosomes.

Quinzii et al. (2010) studied fibroblasts carrying the compound heterozygous R197H/N228S mutations. CoQ10 levels were decreased to 36% of normal, and the cells showed impaired respiratory-dependent growth after 48 hours, decreased ATP levels, increased oxidative stress markers, and increased cell death. The results suggested that partial CoQ10 deficiency can cause both impaired bioenergetics and oxidative stress that is toxic to the cells.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From SingHealth Duke-NUS Institute of Precision Medicine, SCV000853125.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV000992726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Institute of Human Genetics, Klinikum rechts der Isar, SCV001149745.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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