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NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) AND Neurodevelopmental disorder with severe motor impairment and absent language

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 16, 2018
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:
RCV000626487.1

Allele description [Variation Report for NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln)]

NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln)

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.2723G>A (p.Arg908Gln)
HGVS:
  • NC_000003.12:g.47848771G>A
  • NG_052840.1:g.245509C>T
  • NM_001330990.2:c.2639G>A
  • NM_014966.4:c.2606G>A
  • NM_138615.3:c.2723G>AMANE SELECT
  • NP_001317919.1:p.Arg880Gln
  • NP_055781.2:p.Arg869Gln
  • NP_055781.2:p.Arg869Gln
  • NP_619520.1:p.Arg908Gln
  • NC_000003.11:g.47890261G>A
  • NM_014966.3:c.2606G>A
  • NM_138615.2:c.2723G>A
Protein change:
R869Q
Links:
dbSNP: rs1553707019
NCBI 1000 Genomes Browser:
rs1553707019
Molecular consequence:
  • NM_001330990.2:c.2639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014966.4:c.2606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138615.3:c.2723G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neurodevelopmental disorder with severe motor impairment and absent language
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT
Identifiers:
MONDO: MONDO:0060622; MedGen: C4540496; OMIM: 617804

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680469Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 16, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, SCV000680469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

De novo missense variant in a gene compatible with overlapping but more severe phenotype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 18, 2023