NM_004004.6(GJB2):c.235del (p.Leu79fs) AND GJB2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 24, 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:: RCV004528121.2

Allele description [Variation Report for NM_004004.6(GJB2):c.235del (p.Leu79fs)]

NM_004004.6(GJB2):c.235del (p.Leu79fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.235del (p.Leu79fs)

Other names:

NM_004004.5(GJB2):c.235delC(p.Leu79Cysfs); NM_004004.5(GJB2):c.235delC

HGVS:

NC_000013.10:g.20763488delG
NC_000013.11:g.20189349del
NG_008358.1:g.8629del
NM_004004.6:c.235delMANE SELECT
NP_003995.2:p.Leu79fs
LRG_1350t1:c.235del
LRG_1350:g.8629del
LRG_1350p1:p.Leu79fs
NC_000013.10:g.20763486del
NC_000013.10:g.20763486delG
NC_000013.10:g.20763488del
NC_000013.10:g.20763488del
NC_000013.10:g.20763488delG
NC_000013.11:g.20189347delG
NC_000013.11:g.20189349del
NM_004004.5:c.235delC
NM_004004.6:c.235_236delinsTMANE SELECT
NM_004004.6:c.235delCMANE SELECT
c.235delC
c.235delC (p.Leu79Cysfs*3)
p.Leu79Cysfs*3
p.Leu79CysfsX3
p.Leu79fs

Protein change:

L79fs

Links:

OMIM: 121011.0014; dbSNP: rs80338943

NCBI 1000 Genomes Browser:

rs80338943

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004110960	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jul 24, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004110960

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jul 24, 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, SCV004110960.2

#	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.235delC variant is predicted to result in a frameshift and premature protein termination (p.Leu79Cysfs*3). This variant has been reported to be causative for autosomal recessive non-syndromic hearing loss (Hwa et al. 2003. PubMed ID: 12792423; Chan et al. 2010. PubMed ID: 20154630; Pang et al. 2014. PubMed ID: 24945352; Xia et al. 2016. PubMed ID: 27045574). This variant is reported in 0.65% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in GJB2 are expected to be pathogenic. This variant is interpreted as pathogenic by the ClinGen Hearing Loss Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/17014/). We classify this variant 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: Nov 3, 2024

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