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NM_001358921.2(COQ2):c.138dup (p.Ala47fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 30, 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:
RCV001535863.3

Allele description [Variation Report for NM_001358921.2(COQ2):c.138dup (p.Ala47fs)]

NM_001358921.2(COQ2):c.138dup (p.Ala47fs)

Genes:
LOC112997540:Sharpr-MPRA regulatory region 13773 [Gene]
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
Other names:
p.Ala97Argfs*56
HGVS:
  • NC_000004.12:g.83284632dup
  • NG_015825.1:g.5288dup
  • NG_061533.1:g.97dup
  • NM_001358921.2:c.138dupMANE SELECT
  • NM_015697.8:c.288dup
  • NM_015697.9:c.288dup
  • NP_001345850.1:p.Ala47fs
  • NP_056512.5:p.Ala97fs
  • NC_000004.11:g.84205779_84205780insG
  • NC_000004.11:g.84205785dup
  • NM_015697.7:c.288dup
  • NM_015697.7:c.288dupC
Protein change:
A47fs
Links:
dbSNP: rs759310292
NCBI 1000 Genomes Browser:
rs759310292
Molecular consequence:
  • NM_001358921.2:c.138dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015697.9:c.288dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
Name:
Multiple system atrophy (MSA)
Synonyms:
Shy-Drager syndrome; Multiple system atrophy (MSA) with orthostatic hypotension; Orthostatic hypotension, bladder and bowel incontinence, anhidrosis, iris atrophy, amyotrophy, ataxia, rigidity and tremor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007803; MedGen: C0393571; Orphanet: 102

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001752478Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 30, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV001752478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024