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NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) AND Parkinsonism-dystonia 3, childhood-onset

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 17, 2022
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:
RCV001836978.1

Allele description [Variation Report for NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)]

NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)

Gene:
WARS2:tryptophanyl tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
HGVS:
  • NC_000001.11:g.119033311G>C
  • NG_050658.1:g.112478C>G
  • NM_001378226.1:c.614C>G
  • NM_001378227.1:c.614C>G
  • NM_001378228.1:c.512C>G
  • NM_001378229.1:c.425C>G
  • NM_001378230.1:c.401C>G
  • NM_001378231.1:c.*18C>G
  • NM_015836.4:c.683C>GMANE SELECT
  • NM_201263.2:c.*49C>G
  • NP_001365155.1:p.Ser205Trp
  • NP_001365156.1:p.Ser205Trp
  • NP_001365157.1:p.Ser171Trp
  • NP_001365158.1:p.Ser142Trp
  • NP_001365159.1:p.Ser134Trp
  • NP_056651.1:p.Ser228Trp
  • NC_000001.10:g.119575934G>C
  • NM_015836.3:c.683C>G
Protein change:
S134W; SER228TRP
Links:
OMIM: 604733.0008; dbSNP: rs1647600390
NCBI 1000 Genomes Browser:
rs1647600390
Molecular consequence:
  • NM_001378231.1:c.*18C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201263.2:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378226.1:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378227.1:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378228.1:c.512C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378229.1:c.425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378230.1:c.401C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015836.4:c.683C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinsonism-dystonia 3, childhood-onset (PKDYS3)
Identifiers:
MONDO: MONDO:0030676; MedGen: C5676913; OMIM: 619738

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002098036OMIM
no assertion criteria provided
Pathogenic
(Feb 17, 2022) 		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 mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.

Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.

PubMed [citation]
PMID:
29120065
PMCID:
PMC5828974

Details of each submission

From OMIM, SCV002098036.1

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

Description

For discussion of the c.683C-G transversion (c.683C-G, NM_015836.3) in exon 6 of the WARS2 gene, resulting in a ser228-to-trp (S228W) substitution, that was found in compound heterozygous state in a patient with childhood-onset parkinsonism-dystonia-3 (PKDYS3; 619738) by Burke et al. (2018), see 604733.0002.

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

Last Updated: Mar 30, 2024