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NM_004086.3(COCH):c.292C>T (p.Arg98Ter) AND Prelingual sensorineural hearing impairment

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2017
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:
RCV000590999.1

Allele description [Variation Report for NM_004086.3(COCH):c.292C>T (p.Arg98Ter)]

NM_004086.3(COCH):c.292C>T (p.Arg98Ter)

Genes:
COCH:cochlin [Gene - OMIM - HGNC]
LOC100506071:uncharacterized LOC100506071 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_004086.3(COCH):c.292C>T (p.Arg98Ter)
HGVS:
  • NC_000014.9:g.30878863C>T
  • NG_008211.2:g.9329C>T
  • NM_001135058.2:c.292C>T
  • NM_001347720.2:c.487C>T
  • NM_004086.3:c.292C>TMANE SELECT
  • NP_001128530.1:p.Arg98Ter
  • NP_001128530.1:p.Arg98Ter
  • NP_001334649.1:p.Arg163Ter
  • NP_004077.1:p.Arg98Ter
  • NC_000014.8:g.31348069C>T
  • NM_001135058.1:c.292C>T
  • NM_004086.2:c.292C>T
Protein change:
R163*; ARG98TER
Links:
OMIM: 603196.0010; dbSNP: rs756790858
NCBI 1000 Genomes Browser:
rs756790858
Molecular consequence:
  • NM_001135058.2:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347720.2:c.487C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004086.3:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Prelingual sensorineural hearing impairment
Identifiers:
MedGen: C4021806; Human Phenotype Ontology: HP:0000399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000588227Department of Medical Genetics - Wuyts Lab, Antwerp University Hospital
no assertion criteria provided
Pathogenic
(Jun 14, 2017) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes21not providednot providednot providedclinical testing

Citations

PubMed

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W.

Eur J Hum Genet. 2018 Apr;26(4):587-591. doi: 10.1038/s41431-017-0066-2. Epub 2018 Feb 15.

PubMed [citation]
PMID:
29449721
PMCID:
PMC5891501

Details of each submission

From Department of Medical Genetics - Wuyts Lab, Antwerp University Hospital, SCV000588227.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

The c.292C>T (p.Arg98*) was found in homozygous state in two brothers with hearing loss. Heterozygotes show no hearing loss. RNA analysis shows NMD

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided4not provided1not provided

Last Updated: Dec 31, 2022