NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) AND GJB2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2024
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:: RCV004534804.2

Allele description [Variation Report for NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)]

NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)

HGVS:

NC_000013.11:g.20189413G>A
NG_008358.1:g.8563C>T
NM_004004.6:c.169C>TMANE SELECT
NP_003995.2:p.Gln57Ter
LRG_1350t1:c.169C>T
LRG_1350:g.8563C>T
LRG_1350p1:p.Gln57Ter
NC_000013.10:g.20763552G>A
NM_004004.5:c.169C>T
c.169C>T
p.Gln57*
p.Gln57X

Protein change:

Q57*

Links:

dbSNP: rs111033297

NCBI 1000 Genomes Browser:

rs111033297

Molecular consequence:

NM_004004.6:c.169C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: GJB2-related disorder
Synonyms:: GJB2-Related Disorders; GJB2-related condition
Identifiers:

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ITGA6 [Aythya fuligula]
ITGA6 [Aythya fuligula]
Gene ID:116490658

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004713430	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Sep 5, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004713430

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Sep 5, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004713430.2

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

Description

The GJB2 c.169C>T variant is predicted to result in premature protein termination (p.Gln57*). This variant has been reported in multiple individuals with autosomal recessive deafness (Wilcox. 1999. PubMed ID: 10353784; Dodson. 2011. PubMed ID: 21465647; Snoeckx. 2005. PubMed ID: 16380907; Marlin. 2005. PubMed ID: 15967879). This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in GJB2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024

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