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NM_016035.5(COQ4):c.745C>T (p.Arg249Trp) AND Spastic ataxia 10, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003482894.2

Allele description [Variation Report for NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)]

NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)

Gene:
COQ4:coenzyme Q4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)
HGVS:
  • NC_000009.12:g.128333592C>T
  • NG_042101.1:g.16085C>T
  • NG_042101.2:g.15755C>T
  • NG_117637.1:g.111C>T
  • NM_001305942.2:c.*121C>T
  • NM_016035.5:c.745C>TMANE SELECT
  • NP_057119.3:p.Arg249Trp
  • NC_000009.11:g.131095871C>T
Protein change:
R249W; ARG249TRP
Links:
OMIM: 612898.0016
Molecular consequence:
  • NM_001305942.2:c.*121C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016035.5:c.745C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spastic ataxia 10, autosomal recessive (SPAX10)
Identifiers:
MONDO: MONDO:0958009; MedGen: C5882738; OMIM: 620666

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004231730OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

Lin X, Jiang JY, Hong DJ, Lin KJ, Li JJ, Chen YJ, Qiu YS, Wang Z, Liao YC, Yang K, Shi Y, Wang MW, Hsu SL, Hong S, Zeng YH, Chen XC, Wang N, Lee YC, Chen WJ.

Mov Disord. 2024 Jan;39(1):152-163. doi: 10.1002/mds.29664. Epub 2023 Nov 28.

PubMed [citation]
PMID:
38014483

Details of each submission

From OMIM, SCV004231730.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.745C-T transition (c.745C-T, NM_016035.5) in the COQ4 gene, resulting in an arg249-to-trp (R249W) substitution, that was found in compound heterozygous state in 2 sisters with autosomal recessive spastic ataxia-10 (SPAX10; 620666) by Lin et al. (2024), see 612898.0015.

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

Last Updated: Jun 23, 2024