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

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003446489.3

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:
Perrault syndrome 5 (PRLTS5)
Identifiers:
MONDO: MONDO:0014504; MedGen: C4015307; Orphanet: 2855; OMIM: 616138

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004171906Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Neuberg Centre For Genomic Medicine, NCGM, SCV004171906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense c.793C>T(p.Arg265Cys) variant has been reported in homozygous and compound heterozygous state in multiple individuals affected with Perrault Syndrome (Wei L, et. al.,2022; Ołdak M, et. al.,2017). The p.Arg265Cys variant is reported with an allele frequency of 0.0003% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has been reported to the ClinVar database as Uncertain significance. The amino acid Arg at position 265 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. Functional studies are required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: Nov 10, 2024