NM_001358921.2(COQ2):c.440G>A (p.Arg147His) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001550184.2

Allele description [Variation Report for NM_001358921.2(COQ2):c.440G>A (p.Arg147His)]

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

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.440G>A (p.Arg147His)
HGVS:
  • NC_000004.12:g.83273598C>T
  • NG_015825.1:g.16317G>A
  • NM_001358921.2:c.440G>AMANE SELECT
  • NM_015697.9:c.590G>A
  • NP_001345850.1:p.Arg147His
  • NP_056512.5:p.Arg197His
  • NC_000004.11:g.84194751C>T
  • NM_015697.7:c.590G>A
Protein change:
R147H; ARG197HIS
Links:
OMIM: 609825.0003; dbSNP: rs121918231
NCBI 1000 Genomes Browser:
rs121918231
Molecular consequence:
  • NM_001358921.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015697.9:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001770474GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001770474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33587123, 31216405, 28125198, 16400613, 29961769, 29296619, 17855635, 18235438, 27493029, 25525159)

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

Last Updated: Nov 20, 2021

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