U.S. flag

An official website of the United States government

NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) AND Mitochondrial disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2023
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:
RCV003389251.1

Allele description [Variation Report for NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)]

NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)

Gene:
TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
HGVS:
  • NC_000010.11:g.100989003C>T
  • NG_011646.1:g.3513G>A
  • NG_012624.1:g.6468C>T
  • NM_001163812.2:c.793C>T
  • NM_001163813.2:c.-119-641C>T
  • NM_001163814.2:c.-119-641C>T
  • NM_001368275.1:c.-57-703C>T
  • NM_021830.5:c.793C>TMANE SELECT
  • NP_001157284.1:p.Arg265Cys
  • NP_068602.2:p.Arg265Cys
  • NP_068602.2:p.Arg265Cys
  • NC_000010.10:g.102748760C>T
  • NC_000010.10:g.102748760C>T
  • NM_021830.3:c.793C>T
  • NM_021830.4:c.793C>T
  • NR_160738.1:n.1461C>T
  • NR_160740.1:n.1461C>T
  • NR_160741.1:n.1461C>T
  • NR_160742.1:n.1461C>T
Protein change:
R265C
Links:
dbSNP: rs764669712
NCBI 1000 Genomes Browser:
rs764669712
Molecular consequence:
  • NM_001163813.2:c.-119-641C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-641C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-703C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial disease
Synonyms:
Mitochondrial diseases; Mitochondrial disorder
Identifiers:
MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101333Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(Jun 23, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004101333.1

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

Description

The TWNK c.793C>T (p.Arg265Cys) missense variant has been reported in the homozygous state in three siblings with phenotype consistent with infantile-onset spinocerebellar ataxia (IOSCA) in the available peer-reviewed literature (PMID: 27650058). This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may impact the gene or gene product. The c.793C>T variant was detected in trans with a likely pathogenic variant. Based on the available evidence, the c.793C>T (p.Arg265Cys) variant is classified as likely pathogenic for primary mitochondrial disease.

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

Last Updated: Nov 10, 2024