NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile) AND Charcot-Marie-Tooth disease, dominant intermediate C

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000167583.5

Allele description [Variation Report for NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)]

NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)

Gene:
YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p35.1
Genomic location:
Preferred name:
NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)
HGVS:
  • NC_000001.11:g.32810729_32810730delinsAT
  • NG_008408.1:g.12303_12304delinsAT
  • NM_003680.4:c.241_242delinsATMANE SELECT
  • NP_003671.1:p.Asp81Ile
  • LRG_273:g.12303_12304delinsAT
  • NC_000001.10:g.33276330_33276331delinsAT
  • NM_003680.3:c.241_242delGAinsAT
Protein change:
D81I; ASP81ILE
Links:
OMIM: 603623.0004; dbSNP: rs786204003
NCBI 1000 Genomes Browser:
rs786204003
Molecular consequence:
  • NM_003680.4:c.241_242delinsAT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000218464OMIMno assertion criteria providedPathogenic
(Dec 1, 2014)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

Hyun YS, Park HJ, Heo SH, Yoon BR, Nam SH, Kim SB, Park CI, Choi BO, Chung KW.

Clin Genet. 2014 Dec;86(6):592-4. doi: 10.1111/cge.12327. Epub 2013 Dec 20. No abstract available.

PubMed [citation]
PMID:
24354524

Details of each submission

From OMIM, SCV000218464.3

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

Description

In a Korean man with dominant intermediate Charcot-Marie-Tooth disease (CMTDIC; 608323), Hyun et al. (2014) identified a heterozygous c.241_242GA-AT mutation in the YARS gene, resulting in an asp81-to-ile (D81I) substitution at a highly conserved residue in the catalytic domain. The mutation, which was found by exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 137), 1000 Genomes Project, or Exome Variant Server databases, or in 300 controls. Functional studies of the variant were not performed. The parents were unaffected, suggesting that the mutation occurred de novo.

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

Last Updated: Oct 25, 2021

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