NM_003680.4(YARS1):c.260G>A (p.Trp87Ter) AND Charcot-Marie-Tooth disease, dominant intermediate C

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001242803.2

Allele description [Variation Report for NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)]

NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)

Gene:
YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p35.1
Genomic location:
Preferred name:
NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)
HGVS:
  • NC_000001.11:g.32810711C>T
  • NG_008408.1:g.12322G>A
  • NM_003680.3:c.260G>A
  • NM_003680.4:c.260G>AMANE SELECT
  • NP_003671.1:p.Trp87Ter
  • NP_003671.1:p.Trp87Ter
  • LRG_273t1:c.260G>A
  • LRG_273:g.12322G>A
  • LRG_273p1:p.Trp87Ter
  • NC_000001.10:g.33276312C>T
Protein change:
W87*
Links:
dbSNP: rs776952611
NCBI 1000 Genomes Browser:
rs776952611
Molecular consequence:
  • NM_003680.3:c.260G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003680.4:c.260G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Charcot-Marie-Tooth disease, dominant intermediate C (CMTDIC)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Identifiers:
MONDO: MONDO:0012012; MedGen: C1842237; OMIM: 608323

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001415915Invitaecriteria provided, single submitter
Uncertain significance
(Apr 9, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001415915.2

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

Description

This sequence change creates a premature translational stop signal (p.Trp87*) in the YARS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776952611, ExAC 0.004%). This variant has not been reported in the literature in individuals with YARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 451509). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in YARS cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 30, 2021

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