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NM_004004.6(GJB2):c.345dup (p.Lys116Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 26, 2024
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:
RCV003557798.1

Allele description [Variation Report for NM_004004.6(GJB2):c.345dup (p.Lys116Ter)]

NM_004004.6(GJB2):c.345dup (p.Lys116Ter)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.345dup (p.Lys116Ter)
HGVS:
  • NC_000013.11:g.20189239dup
  • NG_008358.1:g.8739dup
  • NM_004004.6:c.345dupMANE SELECT
  • NP_003995.2:p.Lys116Ter
  • LRG_1350t1:c.345dup
  • LRG_1350:g.8739dup
  • LRG_1350p1:p.Lys116Ter
  • NC_000013.10:g.20763375_20763376insA
  • NC_000013.10:g.20763378dup
Protein change:
K116*
Molecular consequence:
  • NM_004004.6:c.345dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004295451Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 26, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Pediatric cholesteatoma and variants in the gene encoding connexin 26.

James AL, Chadha NK, Papsin BC, Stockley TL.

Laryngoscope. 2010 Jan;120(1):183-7. doi: 10.1002/lary.20649.

PubMed [citation]
PMID:
19877196

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC.

Hum Mutat. 1998;11(5):387-94.

PubMed [citation]
PMID:
9600457
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004295451.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Lys116*) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the GJB2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GJB2-related conditions (PMID: 19877196). This variant disrupts a region of the GJB2 protein in which other variant(s) ( p.Gln124* ) have been determined to be pathogenic (PMID: 9600457). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 20, 2024