NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln) AND Coenzyme Q10 deficiency, primary, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 28, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001824233.1

Allele description [Variation Report for NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)]

NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)

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.962T>A (p.Leu321Gln)

HGVS:

NC_000004.12:g.83264353A>T
NG_015825.1:g.25562T>A
NM_001358921.2:c.962T>AMANE SELECT
NM_015697.9:c.1112T>A
NP_001345850.1:p.Leu321Gln
NP_056512.5:p.Leu371Gln
NC_000004.11:g.84185506A>T

Protein change:

L321Q

Links:

dbSNP: rs1397649685

NCBI 1000 Genomes Browser:

rs1397649685

Molecular consequence:

NM_001358921.2:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015697.9:c.1112T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Coenzyme Q10 deficiency, primary, 1
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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002073866	Genomics Facility, Ludwig-Maximilians-Universität München	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 28, 2021)	biparental	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25741868, 23343605, 27493029

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002073866

Genomics Facility, Ludwig-Maximilians-Universität München

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 28, 2021)

biparental

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ.

J Neurol Sci. 2013 Mar 15;326(1-2):24-8. doi: 10.1016/j.jns.2013.01.004. Epub 2013 Jan 21. Review.

PubMed [citation]

PMID:: 23343605

See all PubMed Citations (3)

Details of each submission

From Genomics Facility, Ludwig-Maximilians-Universität München, SCV002073866.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Dec 24, 2023

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