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NM_004004.6(GJB2):c.93del (p.Arg32fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV003557801.2

Allele description [Variation Report for NM_004004.6(GJB2):c.93del (p.Arg32fs)]

NM_004004.6(GJB2):c.93del (p.Arg32fs)

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.93del (p.Arg32fs)
HGVS:
  • NC_000013.11:g.20189493del
  • NG_008358.1:g.8487del
  • NM_004004.6:c.93delMANE SELECT
  • NP_003995.2:p.Arg32fs
  • LRG_1350t1:c.93del
  • LRG_1350:g.8487del
  • LRG_1350p1:p.Arg32fs
  • NC_000013.10:g.20763628del
  • NC_000013.10:g.20763632del
Protein change:
R32fs
Molecular consequence:
  • NM_004004.6:c.93del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004295458Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 22, 2023) 		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

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.

Chai Y, Pang X, Chen D, Li L, Chen Y, Sun L, Wang X, Wu H, Yang T.

Am J Med Genet A. 2014 Dec;164A(12):3115-9. doi: 10.1002/ajmg.a.36785. Epub 2014 Sep 23.

PubMed [citation]
PMID:
25251670

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

Gonçalves AC, Chora J, Matos TD, Santos R, O'Neill A, Escada P, Fialho G, Caria H.

Int J Pediatr Otorhinolaryngol. 2013 Jan;77(1):89-91. doi: 10.1016/j.ijporl.2012.10.002. Epub 2012 Nov 8.

PubMed [citation]
PMID:
23141775
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004295458.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg32Alafs*3) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 195 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 deafness (PMID: 25251670). This variant disrupts a region of the GJB2 protein in which other variant(s) (p.Leu213*) have been determined to be pathogenic (PMID: 23141775). 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: Sep 29, 2024