NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) AND Autosomal recessive ataxia due to ubiquinone deficiency

Germline classification:: Uncertain significance (1 submission)
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:: RCV000824899.2

Allele description [Variation Report for NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg)]

NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg)

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.1471T>A (p.Trp491Arg)

HGVS:

NC_000001.11:g.226984620T>A
NG_012825.2:g.92085T>A
NM_020247.5:c.1471T>AMANE SELECT
NP_064632.2:p.Trp491Arg
LRG_1092t1:c.1471T>A
LRG_1092:g.92085T>A
LRG_1092p1:p.Trp491Arg
NC_000001.10:g.227172321T>A
NM_020247.4:c.1471T>A

Protein change:

W491R

Links:

dbSNP: rs1278938202

NCBI 1000 Genomes Browser:

rs1278938202

Molecular consequence:

NM_020247.5:c.1471T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive ataxia due to ubiquinone deficiency
Synonyms:: Spinocerebellar ataxia, autosomal recessive 9; Coenzyme Q10 deficiency, primary, 4
Identifiers:: MONDO: MONDO:0012784; MedGen: C2677589; Orphanet: 139485; OMIM: 612016

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000965820	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	no assertion criteria provided	Uncertain significance	inherited	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000965820

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

no assertion criteria provided

Uncertain significance

inherited

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965820.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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