ClinVar Genomic variation as it relates to human health
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
Variation ID: 17006 Accession: VCV000017006.55
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 13q12.11 13: 20189222-20189224 (GRCh38) [ NCBI UCSC ] 13: 20763361-20763363 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 3, 2013 Oct 8, 2024 Feb 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004004.6:c.355GAG[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003995.2:p.Glu120del inframe deletion NM_004004.6:c.358_360del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_004004.6:c.358_360delGAG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NC_000013.11:g.20189222CTC[1] NC_000013.10:g.20763361CTC[1] NG_008358.1:g.8749GAG[1] LRG_1350:g.8749GAG[1] LRG_1350t1:c.355GAG[1] LRG_1350p1:p.Glu120del - Protein change
- E120del
- Other names
- E118del
- E120delE
- Canonical SPDI
- NC_000013.11:20189221:CTCCTC:CTC
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
569 | 636 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV000018530.53 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 8, 2013 | RCV000146018.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 26, 2022 | RCV000211776.9 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 24, 2024 | RCV000520132.35 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 8, 2015 | RCV000678881.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 21, 2020 | RCV001257563.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 26, 2022 | RCV002496401.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jul 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001810448.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
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Pathogenic
(Mar 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Mutilating keratoderma
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome Autosomal recessive nonsyndromic hearing loss 1A X-linked mixed hearing loss with perilymphatic gusher Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002810521.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 24, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000945066.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This variant, c.358_360del, results in the deletion of 1 amino acid(s) of the GJB2 protein (p.Glu120del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.358_360del, results in the deletion of 1 amino acid(s) of the GJB2 protein (p.Glu120del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs80338947, gnomAD 0.01%). This variant has been observed in individuals with autosomal recessive deafness (PMID: 10544226, 11438992, 15070423, 16712961, 18941476, 20553101, 20609484, 25214170). ClinVar contains an entry for this variant (Variation ID: 17006). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects GJB2 function (PMID: 12505163, 18941476). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(May 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005199406.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
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Hearing impairment
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000193170.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Pathogenic
(May 09, 2017)
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criteria provided, single submitter
Method: clinical testing
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Deafness, autosomal recessive 1A
Affected status: no, yes
Allele origin:
germline
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000599747.1
First in ClinVar: Sep 19, 2017 Last updated: Sep 19, 2017 |
Observation 1:
Number of individuals with the variant: 2
Observation 2:
Number of individuals with the variant: 1
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Pathogenic
(Dec 27, 2016)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698248.1
First in ClinVar: Jan 06, 2018 Last updated: Jan 06, 2018 |
Comment:
Variant summary: The GJB2 c.358_360delGAG (p.Glu120del) variant involves the deletion of one amino acid (Glu). One in silico tool predicts a damaging outcome for this … (more)
Variant summary: The GJB2 c.358_360delGAG (p.Glu120del) variant involves the deletion of one amino acid (Glu). One in silico tool predicts a damaging outcome for this variant. This variant was found in 8/121052 control chromosomes at a frequency of 0.0000661, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). This variant has been reported as one of the most prevalent GJB2 pathogenic variant. Functional study showed GJB2 p.glu120del could not for homotypic gap-junction channels, thus lose the junctional conductance (Bruzzone_2003). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Mar 16, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Athena Diagnostics
Accession: SCV000841706.1
First in ClinVar: Dec 19, 2017 Last updated: Dec 19, 2017 |
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Pathogenic
(Oct 18, 2018)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914613.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The GJB2 c.358_360delGAG (p.Glu120del) variant is an inframe deletion that has been reported in at least four studies in which it was found in at … (more)
The GJB2 c.358_360delGAG (p.Glu120del) variant is an inframe deletion that has been reported in at least four studies in which it was found in at least 20 individuals with hearing loss, including seven homozygotes, 12 compound heterozygotes and on heterozygote in whom a second variant was not identified (Murgia et al. 2009; Tekin et al. 2003; Snoeckx et al. 2005; Mani et al. 2009). The p.Glu120del variant was absent from 120 control alleles and is reported at a frequency of 0.000135 in the European (non-Finnish) population of the Genome Aggregation Database. Functional studies conducted by two independent laboratories in Xenopus oocytes and HeLa cells revealed that compared with the wild type protein and negative control, the p.Glu120del variant resulted in the loss of gap junction channel function (Bruzzone et al. 2003; Mani et al. 2009). Further studies in HeLa cells revealed near-normal trafficking of the variant-containing protein to the cell membrane but reduced protein expression (Mani et al. 2009). Based on the collective evidence, the p.Glu120del variant is classified as pathogenic for autosomal recessive nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Aug 01, 2020)
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criteria provided, single submitter
Method: research
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
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King Laboratory, University of Washington
Accession: SCV002059938.1
First in ClinVar: Jan 14, 2022 Last updated: Jan 14, 2022 |
Comment:
GJB2 c.358_360delGAG, p.E120del was previously shown to be deficient in inducing formation of junctional channels (PMID: 18941476). It is homozygous in two children from a … (more)
GJB2 c.358_360delGAG, p.E120del was previously shown to be deficient in inducing formation of junctional channels (PMID: 18941476). It is homozygous in two children from a Palestinian family with pre-lingual nonsyndromic hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and present in 20/281644 alleles on gnomAD, all heterozygotes. (less)
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Pathogenic
(Nov 24, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000617686.3
First in ClinVar: Dec 19, 2017 Last updated: Mar 04, 2023 |
Comment:
In-frame deletion of one amino acid in the cytoplasmic loop, a non-repeat region; Published functional studies demonstrate c.358_360delGAG impairs the function of gap channels (Bruzzone … (more)
In-frame deletion of one amino acid in the cytoplasmic loop, a non-repeat region; Published functional studies demonstrate c.358_360delGAG impairs the function of gap channels (Bruzzone et al., 2003; Mani et al., 2009); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22975760, 29485809, 15070423, 11438992, 20609484, 10544226, 12673800, 15666300, 15967879, 16712961, 12505163, 18941476, 27573290, 27177978, 29501291, 31160754, 32747562, 33096615, 31589614, 33105617, 34581455, 34695157) (less)
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Pathogenic
(Aug 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Rare genetic deafness
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061503.6
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Glu120del variant in GJB2 has been reported in the homozygous state in more than ten probands and in the compound heterozygous state with another … (more)
The p.Glu120del variant in GJB2 has been reported in the homozygous state in more than ten probands and in the compound heterozygous state with another GJB2 pathogenic variant in more than nine probands with hearing loss (Najmabadi 2005, Tekin 2003, Hismi 2006, Marlin 2005, Mani 2008, LMM data). This variant has been identified in 17/126016 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs80338947); however, its frequency is low enough to be consistent with a recessive carrier frequency for autosomal recessive nonsyndromic hearing loss. Functional studies indicate that the channels formed by the p.Glu120del mutant protein are inactive (Mani 2008). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive hearing loss. ACMG/AMP criteria applied: PM3_VeryStrong, PM2, PS2_Supporting (less)
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Pathogenic
(Jul 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001747686.19
First in ClinVar: Jul 10, 2021 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 3
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Pathogenic
(Dec 20, 2019)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193940.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_004004.5(GJB2):c.358_360delGAG(E120del) is classified as pathogenic in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. Sources cited for classification include the following: PMID 19371219, … (more)
NM_004004.5(GJB2):c.358_360delGAG(E120del) is classified as pathogenic in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. Sources cited for classification include the following: PMID 19371219, 18941476, 25012701, 22695344, and 12505163. Classification of NM_004004.5(GJB2):c.358_360delGAG(E120del) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Aug 21, 2020)
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criteria provided, single submitter
Method: clinical testing
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Nonsyndromic hearing loss and deafness
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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INGEBI, INGEBI / CONICET
Accession: SCV001434017.1
First in ClinVar: Oct 02, 2020 Last updated: Oct 02, 2020 |
Comment:
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of the c.358_360del variant in GJB2 which leads to p.(Glu120del) … (more)
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of the c.358_360del variant in GJB2 which leads to p.(Glu120del) change is 0,008% (17/128492 European non-Finnish alleles with 95% CI) in Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which meets PM2_Supporting criteria. The c.358_360del variant is predicted to cause a protein length change due to an in-frame deletion that is not located in a repetitive region applying to PM4 rule. This variant was detected in trans with at least 4 pathogenic variants among different hearing loss patients (PMID: 1054426, 12673800, 15666300, 24158611) applying to PM3_VeryStrong criteria. Functional studies showed that p.Glu120del mutant did not induce the formation of homotypic junctional channel since the conductance levels measured did not exceed the background levels in Xenopus laevis oocytes (PMID:12505163). Besides, no dye transfer (Lucifer Yellow) was observed when p.Glu120del mutant was tested in HeLa cells (PMID:18941476) meeting PS3_Moderate rule. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive non-syndromic hearing loss: PM2_Supporting, PM4, PM3_VeryStrong, PS3_Moderate. (less)
Number of individuals with the variant: 2
Clinical Features:
Postlingual moderate bilateral hearing loss (present)
Family history: no
Sex: mixed
Ethnicity/Population group: Caucasian
Geographic origin: Argentina
Tissue: blood
Secondary finding: no
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Pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: curation
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: no
Allele origin:
germline
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV005051794.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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Pathogenic
(Apr 01, 2016)
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no assertion criteria provided
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
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Institut Pasteur du Maroc
Accession: SCV000267103.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Comment:
Pathogenic
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Pathogenic
(May 28, 1998)
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no assertion criteria provided
Method: literature only
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DEAFNESS, AUTOSOMAL RECESSIVE 1A
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000038812.6
First in ClinVar: Apr 04, 2013 Last updated: Sep 19, 2017 |
Comment on evidence:
In 2 Australian sisters with autosomal recessive deafness (220290), Denoyelle et al. (1997) found compound heterozygosity for deletion of codon 118 (glu) and an arg184-to-pro … (more)
In 2 Australian sisters with autosomal recessive deafness (220290), Denoyelle et al. (1997) found compound heterozygosity for deletion of codon 118 (glu) and an arg184-to-pro (R184P; 121011.0008) amino acid substitution in the GJB2 gene. One sister had moderate deafness, and the other had severe deafness. (less)
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Pathogenic
(Oct 08, 2015)
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no assertion criteria provided
Method: clinical testing
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Hearing loss
Affected status: yes
Allele origin:
germline
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Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000805074.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Autosomal recessive deafness type 1A
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001463374.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: not provided
Allele origin:
unknown
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GeneReviews
Accession: SCV000041045.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. | Adam MP | - | 2023 | PMID: 20301449 |
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions. | Bliznetz EA | Journal of human genetics | 2017 | PMID: 28405014 |
Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness. | Banjara H | Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India | 2016 | PMID: 27340645 |
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. | Bakhchane A | European journal of medical genetics | 2016 | PMID: 27169813 |
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. | Beck C | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2015 | PMID: 25214170 |
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss. | Zeinali S | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2015 | PMID: 25012701 |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. | Dalamón V | Molecular biology reports | 2013 | PMID: 24158611 |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. | Matos TD | International journal of audiology | 2013 | PMID: 23668481 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. | Bazazzadegan N | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22695344 |
High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene. | Mahdieh N | International journal of pediatric otorhinolaryngology | 2010 | PMID: 20609484 |
Causes of hearing impairment in the Norwegian paediatric cochlear implant program. | Siem G | International journal of audiology | 2010 | PMID: 20553101 |
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. | Bartsch O | Audiology & neuro-otology | 2010 | PMID: 20234132 |
Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population. | Kokotas H | Genetic testing and molecular biomarkers | 2010 | PMID: 20059378 |
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. | Primignani P | Genetic testing and molecular biomarkers | 2009 | PMID: 19371219 |
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. | Mani RS | European journal of human genetics : EJHG | 2009 | PMID: 18941476 |
Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes. | Hişmi BO | International journal of pediatric otorhinolaryngology | 2006 | PMID: 16712961 |
GJB2 mutations and degree of hearing loss: a multicenter study. | Snoeckx RL | American journal of human genetics | 2005 | PMID: 16380907 |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. | Marlin S | Archives of otolaryngology--head & neck surgery | 2005 | PMID: 15967879 |
GJB2 mutations: passage through Iran. | Najmabadi H | American journal of medical genetics. Part A | 2005 | PMID: 15666300 |
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. | Santos RL | Clinical genetics | 2005 | PMID: 15617550 |
Molecular epidemiology of DFNB1 deafness in France. | Roux AF | BMC medical genetics | 2004 | PMID: 15070423 |
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. | Tekin M | Human mutation | 2003 | PMID: 12673800 |
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. | Bruzzone R | FEBS letters | 2003 | PMID: 12505163 |
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). | Lin D | Human mutation | 2001 | PMID: 11438992 |
Cx26 deafness: mutation analysis and clinical variability. | Murgia A | Journal of medical genetics | 1999 | PMID: 10544226 |
Connexin 26 gene linked to a dominant deafness. | Denoyelle F | Nature | 1998 | PMID: 9620796 |
The influence of mass media on the public's attitude toward fluoridation of drinking water in New Orleans. | Wallace CJ | Journal of public health dentistry | 1975 | PMID: 1054426 |
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Text-mined citations for rs80338947 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.