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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Aug 5, 2021)
Last evaluated:
Dec 30, 2020
Accession:
VCV000001438.6
Variation ID:
1438
Description:
single nucleotide variant
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NM_001358921.2(COQ2):c.440G>A (p.Arg147His)

Allele ID
16477
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q21.23
Genomic location
4: 83273598 (GRCh38) GRCh38 UCSC
4: 84194751 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.84194751C>T
NC_000004.12:g.83273598C>T
NG_015825.1:g.16317G>A
... more HGVS
Protein change
R197H, R147H
Other names
-
Canonical SPDI
NC_000004.12:83273597:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA250021
OMIM: 609825.0003
dbSNP: rs121918231
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 12, 2018 RCV000001503.7
Likely pathogenic 1 criteria provided, single submitter Dec 30, 2020 RCV001550184.2
Pathogenic 1 no assertion criteria provided Jun 7, 2016 RCV000416395.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COQ2 - - GRCh38
GRCh37
84 135

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 12, 2018)
criteria provided, single submitter
Method: clinical testing
Coenzyme Q10 deficiency, primary 1
Allele origin: germline
Baylor Genetics
Accession: SCV000992726.1
Submitted: (Mar 14, 2019)
Evidence details
Publications
PubMed (3)
Pathogenic
(Jan 04, 2018)
criteria provided, single submitter
Method: clinical testing
Coenzyme Q10 deficiency, primary 1
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001149745.1
Submitted: (Jan 21, 2020)
Evidence details
Likely pathogenic
(Dec 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001770474.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
Yeast complementation analyses showed failure of this variant to restore respiratory growth to wild type levels (Desbats et al., 2016); Not observed at a significant … (more)
Pathogenic
(Jun 07, 2016)
no assertion criteria provided
Method: literature only
Coenzyme Q10 deficiency, primary
Allele origin: germline
GeneReviews
Accession: SCV000494122.1
Submitted: (Jun 07, 2016)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…
Pathogenic
(Oct 01, 2007)
no assertion criteria provided
Method: literature only
COENZYME Q10 DEFICIENCY, PRIMARY, 1
Allele origin: germline
OMIM
Accession: SCV000021658.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Jun 07, 2017)
no assertion criteria provided
Method: curation
Coenzyme Q10 deficiency, primary 1
Allele origin: germline
SingHealth Duke-NUS Institute of Precision Medicine
Accession: SCV000853125.1
Submitted: (Apr 09, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Primary Coenzyme Q<sub>10</sub> Deficiency Salviati L - 2017 PMID: 28125198
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. Desbats MA Human molecular genetics 2016 PMID: 27493029
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. Diomedi-Camassei F Journal of the American Society of Nephrology : JASN 2007 PMID: 17855635
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Quinzii C American journal of human genetics 2006 PMID: 16400613
http://www.ncbi.nlm.nih.gov/books/NBK410087/ - - - -

Text-mined citations for rs121918231...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021