NM_004086.3(COCH):c.292C>T (p.Arg98Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2022
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:: RCV002473025.1

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)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002769911	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002769911

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 21, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002769911.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29449720, 34426522, 31126177, 32939038, 32562050, 29449721)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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