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

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000454247.1

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_001330990.2:c.1601A>G
  • NM_014966.4: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_001330990.2:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014966.4:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138615.3:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Hearing impairment
Synonyms:
Congenital hearing loss; Hearing defect; Hypoacusis
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Name:
Sleep disturbance
Synonyms:
Sleep dysfunction; Sleep disturbances; Difficulty sleeping; See all synonyms [MedGen]
Identifiers:
MedGen: C0037317; Human Phenotype Ontology: HP:0002360
Name:
Muscular hypotonia of the trunk
Synonyms:
Axial hypotonia; Truncal hypotonia; Low muscle tone in trunk
Identifiers:
MedGen: C1853743; Human Phenotype Ontology: HP:0008936
Name:
Delayed speech and language development
Synonyms:
Deficiency of speech development; Delayed language development; Delayed speech acquisition; See all synonyms [MedGen]
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Strabismus
Synonyms:
Squint; Cross-eyed; Heterotropia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537905Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Pathogenicde novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, et al.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

PubMed [citation]
PMID:
28327206
PMCID:
PMC5361813

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537905.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

This variant was identified as de novo in an individual with developmental delay, speech delay, sleep disturbance, microcephaly, truncal and orofacial hypotonia, strabismus on the right, hyperopia, and bilateral hearing loss.

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

Last Updated: Oct 24, 2021

Support Center