NM_138615.3(DHX30):c.1685A>G (p.His562Arg) AND Neurodevelopmental disorder with severe motor impairment and absent language

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2020)

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:
RCV000544652.3

Allele description [Variation Report for NM_138615.3(DHX30):c.1685A>G (p.His562Arg)]

NM_138615.3(DHX30):c.1685A>G (p.His562Arg)

Gene:
DHX30:DExH-box helicase 30 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_138615.3(DHX30):c.1685A>G (p.His562Arg)
HGVS:
  • NC_000003.12:g.47846757A>G
  • NM_001330990.1:c.1601A>G
  • NM_014966.3:c.1568A>G
  • NM_138615.3:c.1685A>GMANE SELECT
  • NP_001317919.1:p.His534Arg
  • NP_055781.2:p.His523Arg
  • NP_619520.1:p.His562Arg
  • NC_000003.11:g.47888247A>G
  • NM_138615.2:c.1685A>G
Protein change:
H523R; HIS562ARG
Links:
OMIM: 616423.0002; dbSNP: rs1060499733
NCBI 1000 Genomes Browser:
rs1060499733
Molecular consequence:
  • NM_001330990.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014966.3:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138615.3:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with severe motor impairment and absent language
Identifiers:
MONDO: MONDO:0060622; MedGen: C4540496; OMIM: 617804

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000622122OMIMno assertion criteria providedPathogenic
(Jul 14, 2020)
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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, et al.

Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014. Erratum in: Am J Hum Genet. 2018 Jan 4;102(1):196.

PubMed [citation]
PMID:
29100085
PMCID:
PMC5673606

Details of each submission

From OMIM, SCV000622122.2

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

Description

In a 6-year-old Turkish girl (proband C), born of unrelated parents, with neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL; 617804), Lessel et al. (2017) identified a de novo heterozygous c.1685A-G transition (c.1685A-G, NM_138615.2) in the DHX30 gene, resulting in a his562-to-arg (H562R) substitution at a highly conserved residue in motif II within the helicase core region, which coordinates ATP binding and hydrolysis. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, ExAC, or gnomAD databases.

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

Last Updated: Sep 29, 2021

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