NM_016138.5(COQ7):c.28_44dup (p.Arg16fs) AND Primary coenzyme Q10 deficiency 8

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003335902.1

Allele description [Variation Report for NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)]

NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)

Genes:

LOC130058587:ATAC-STARR-seq lymphoblastoid silent region 7240 [Gene]
COQ7-DT:COQ7 divergent transcript [Gene - HGNC]
COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p12.3

Genomic location:

Preferred name:

NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)

HGVS:

NC_000016.10:g.19067692_19067708dup
NG_046596.1:g.5098_5114dup
NG_046596.2:g.5080_5096dup
NG_193008.1:g.155_171dup
NM_001370490.1:c.28_44dup
NM_016138.5:c.28_44dupMANE SELECT
NP_001357419.1:p.Arg16fs
NP_057222.2:p.Arg16fs
NC_000016.9:g.19079014_19079030dup
NM_016138.4:c.28_44dup
NR_163448.1:n.79_95dup
NR_163450.1:n.79_95dup

Protein change:

R16fs

Molecular consequence:

NM_001370490.1:c.28_44dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_016138.5:c.28_44dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_163448.1:n.79_95dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163450.1:n.79_95dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Primary coenzyme Q10 deficiency 8
Identifiers:: MONDO: MONDO:0014754; MedGen: C4225226; OMIM: 616733

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004046185	Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004046185

Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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	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

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV004046185.1

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

Description

This frameshifting variant in exon 1 of 6 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge; however, loss-of-function variation in COQ7 has been reported in affected individuals in the literature (PMID: 31240163). The c.28_44dup (p.Arg16ProfsTer30) variant is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.28_44dup (p.Arg16ProfsTer30) variant is classified as Likely Pathogenic.

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

Last Updated: Oct 28, 2023

ClinVar

Relating variation to medicine