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NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 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:
RCV001946836.4

Allele description [Variation Report for NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter)]

NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter)

Gene:
COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter)
HGVS:
  • NC_000001.11:g.226982926G>A
  • NG_012825.2:g.90391G>A
  • NM_020247.5:c.972G>AMANE SELECT
  • NP_064632.2:p.Trp324Ter
  • LRG_1092t1:c.972G>A
  • LRG_1092:g.90391G>A
  • LRG_1092p1:p.Trp324Ter
  • NC_000001.10:g.227170627G>A
Protein change:
W324*
Links:
dbSNP: rs1350444582
NCBI 1000 Genomes Browser:
rs1350444582
Molecular consequence:
  • NM_020247.5:c.972G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002238153Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 25, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M.

Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024.

PubMed [citation]
PMID:
18319074
PMCID:
PMC2427193

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H.

Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23.

PubMed [citation]
PMID:
20580948
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002238153.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant has not been reported in the literature in individuals affected with COQ8A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp324*) in the COQ8A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COQ8A are known to be pathogenic (PMID: 18319074, 20580948). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024