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NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 30, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000853100.2

Allele description [Variation Report for NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)]

NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)

Gene:
DHX37:DEAH-box helicase 37 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)
HGVS:
  • NC_000012.12:g.124971348T>C
  • NM_032656.4:c.1145A>GMANE SELECT
  • NP_116045.2:p.Asp382Gly
  • NC_000012.11:g.125455894T>C
  • NM_032656.3:c.1145A>G
Protein change:
D382G
Links:
dbSNP: rs1424699115
NCBI 1000 Genomes Browser:
rs1424699115
Molecular consequence:
  • NM_032656.4:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Coloboma of optic nerve
Synonyms:
Optic nerve head pits, bilateral congenital; Congenital coloboma of the optic nerve; Coloboma of optic nerve (disease)
Identifiers:
MONDO: MONDO:0007354; MedGen: C0155299; Orphanet: 35737; OMIM: 120430; Human Phenotype Ontology: HP:0000588
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Choreoathetosis
Identifiers:
MedGen: C0085583; Human Phenotype Ontology: HP:0001266
Name:
Polymicrogyria
Identifiers:
MONDO: MONDO:0000087; MedGen: C0266464; Human Phenotype Ontology: HP:0002126
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Abnormality of neuronal migration
Identifiers:
MedGen: C1837249; Human Phenotype Ontology: HP:0002269
Name:
Cerebellar dysplasia
Identifiers:
MedGen: C3278322; Human Phenotype Ontology: HP:0007033
Name:
Chorioretinal lacunae
Identifiers:
MedGen: C1844751; Human Phenotype Ontology: HP:0007858
Name:
Neurodevelopmental delay
Identifiers:
MedGen: C4022738; Human Phenotype Ontology: HP:0012758

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995955Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Likely pathogenic
(May 30, 2019) 		de novoresearch

Help

Summary from all submissions

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

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000995955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024