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NM_004086.3(COCH):c.292C>T (p.Arg98Ter) AND Hearing loss, autosomal recessive 110

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2018
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:
RCV000678208.1

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]

Condition(s)

Name:
Hearing loss, autosomal recessive 110
Synonyms:
Deafness, autosomal recessive 110
Identifiers:
MONDO: MONDO:0054860; MedGen: C4748162; OMIM: 618094

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804210OMIM
no assertion criteria provided
Pathogenic
(Aug 29, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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 OMIM, SCV000804210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers, born of consanguineous Belgian parents of Moroccan descent, with autosomal recessive deafness-110 (DFNB110; 618094), JanssensdeVarebeke et al. (2018) identified a homozygous c.292C-T transition (c.292C-T, NM_004086.2) in exon 5 of the COCH gene, resulting in an arg98-to-ter (R98X) substitution. The mutation, which was found by next-generation sequencing of a gene panel and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found once in heterozygous state in the ExAC database. RNA analysis showed that the mutation resulted in nonsense-mediated mRNA decay and a complete loss of function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 31, 2022