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NM_004004.6(GJB2):c.246C>G (p.Ile82Met) AND GJB2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 27, 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:
RCV004528922.3

Allele description [Variation Report for NM_004004.6(GJB2):c.246C>G (p.Ile82Met)]

NM_004004.6(GJB2):c.246C>G (p.Ile82Met)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
HGVS:
  • NC_000013.11:g.20189336G>C
  • NG_008358.1:g.8640C>G
  • NM_004004.6:c.246C>GMANE SELECT
  • NP_003995.2:p.Ile82Met
  • LRG_1350t1:c.246C>G
  • LRG_1350:g.8640C>G
  • LRG_1350p1:p.Ile82Met
  • NC_000013.10:g.20763475G>C
  • NM_004004.5:c.246C>G
Protein change:
I82M
Links:
dbSNP: rs781534323
NCBI 1000 Genomes Browser:
rs781534323
Molecular consequence:
  • NM_004004.6:c.246C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004103564PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 27, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004103564.2

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

Description

The GJB2 c.246C>G variant is predicted to result in the amino acid substitution p.Ile82Met. This variant was reported in at least two individuals with autosomal recessive nonsyndromic hearing loss in the compound heterozygous state along with a second pathogenic variant (Kupka. 2002. PubMed ID: 12112666; Dalamón. 2005. PubMed ID: 15964725). In vitro experiments demonstrated this variant impairs protein function (Palmada. 2005. PubMed ID: 16300957). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 10, 2024