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NM_004004.6(GJB2):c.11del (p.Gly4fs) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 21, 2018
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:
RCV001002185.8

Allele description [Variation Report for NM_004004.6(GJB2):c.11del (p.Gly4fs)]

NM_004004.6(GJB2):c.11del (p.Gly4fs)

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.11del (p.Gly4fs)
HGVS:
  • NC_000013.10:g.20763710del
  • NC_000013.11:g.20189574del
  • NG_008358.1:g.8405del
  • NM_004004.6:c.11delMANE SELECT
  • NP_003995.2:p.Gly4fs
  • LRG_1350t1:c.11del
  • LRG_1350:g.8405del
  • LRG_1350p1:p.Gly4fs
  • NC_000013.10:g.20763710del
  • NC_000013.10:g.20763713del
  • NC_000013.10:g.20763713delC
  • NM_004004.5:c.11del
  • NM_004004.5:c.11delG
Protein change:
G4fs
Links:
dbSNP: rs1555342014
NCBI 1000 Genomes Browser:
rs1555342014
Molecular consequence:
  • NM_004004.6:c.11del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160056ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Pathogenic
(Oct 21, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GJB2 c.11delG; p.Gly4fs variant, also published as 8delG, is reported in the medical literature in at least two individuals with hearing loss (Banjara 2016, Putcha 2007). The variant is reported in the ClinVar database (Variation ID: 496214), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, the variant is classified as pathogenic in the Deafness Variation Database (see link below) and other frameshift variants in this region are classified as pathogenic (see link to ClinVar below). Considering available information, this variant is classified as pathogenic. References: Link to Deafness Variation Database: http://deafnessvariationdatabase.org Link to GJB2 in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/?term=GJB2%5Bgene%5D Banjara H et al. Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness. Indian J Otolaryngol Head Neck Surg. 2016 Jun;68(2):248-53. Putcha GV et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul;9(7):413-26.

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

Last Updated: Sep 29, 2024