NM_001358921.2(COQ2):c.261G>A (p.Trp87Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 14, 2024
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:: RCV003669358.2

Allele description [Variation Report for NM_001358921.2(COQ2):c.261G>A (p.Trp87Ter)]

NM_001358921.2(COQ2):c.261G>A (p.Trp87Ter)

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.261G>A (p.Trp87Ter)

HGVS:

NC_000004.12:g.83279107C>T
NG_015825.1:g.10808G>A
NM_001358921.2:c.261G>AMANE SELECT
NM_015697.9:c.411G>A
NP_001345850.1:p.Trp87Ter
NP_056512.5:p.Trp137Ter
NC_000004.11:g.84200260C>T

Protein change:

W137*

Molecular consequence:

NM_001358921.2:c.261G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_015697.9:c.411G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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LOC108668121 [Hyalella azteca]
LOC108668121 [Hyalella azteca]
Gene ID:108668121

Gene
LDHB [Balearica regulorum gibbericeps]
LDHB [Balearica regulorum gibbericeps]
Gene ID:104635794

Gene
"Ketonuria"[Clinical Features] OR 56402[uid] (28)
MedGen
Genes with a similar H3K4me3 profile for Gene (Select 1506) (55)
Gene
PHD finger protein 20b isoform X2 [Latimeria chalumnae]
PHD finger protein 20b isoform X2 [Latimeria chalumnae]
gi|556947372|ref|XP_005986727.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004391882	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 14, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16400613, 17374725, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004391882

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 14, 2024)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P.

Hum Mol Genet. 2007 May 1;16(9):1091-7. Epub 2007 Mar 20.

PubMed [citation]

PMID:: 17374725
PMCID:: PMC4345105

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004391882.1

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

Description

This sequence change creates a premature translational stop signal (p.Trp137*) in the COQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COQ2 are known to be pathogenic (PMID: 16400613, 17374725). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2444449). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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