NM_003587.5(DHX16):c.2827A>G (p.Ile943Val) AND Neuromuscular disease and ocular or auditory anomalies with or without seizures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2024
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:
RCV003990203.2

Allele description [Variation Report for NM_003587.5(DHX16):c.2827A>G (p.Ile943Val)]

NM_003587.5(DHX16):c.2827A>G (p.Ile943Val)

Gene:
DHX16:DEAH-box helicase 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_003587.5(DHX16):c.2827A>G (p.Ile943Val)
HGVS:
  • NC_000006.12:g.30654876T>C
  • NM_001164239.2:c.2647A>G
  • NM_001363515.2:c.1384A>G
  • NM_003587.5:c.2827A>GMANE SELECT
  • NP_001157711.1:p.Ile883Val
  • NP_001350444.1:p.Ile462Val
  • NP_003578.2:p.Ile943Val
  • NC_000006.11:g.30622653T>C
Protein change:
I462V
Molecular consequence:
  • NM_001164239.2:c.2647A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363515.2:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003587.5:c.2827A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuromuscular disease and ocular or auditory anomalies with or without seizures
Synonyms:
NEUROMUSCULAR OCULOAUDITORY SYNDROME
Identifiers:
MONDO: MONDO:0032890; MedGen: C5231483; OMIM: 618733

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004806602Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 26, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024