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NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) AND Autosomal dominant nonsyndromic hearing loss 2B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1998
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:
RCV000006859.4

Allele description [Variation Report for NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)]

NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)

Gene:
GJB3:gap junction protein beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.3
Genomic location:
Preferred name:
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
HGVS:
  • NC_000001.11:g.34785300C>T
  • NG_008309.1:g.9112C>T
  • NM_001005752.2:c.538C>T
  • NM_024009.3:c.538C>TMANE SELECT
  • NP_001005752.1:p.Arg180Ter
  • NP_076872.1:p.Arg180Ter
  • NC_000001.10:g.35250901C>T
  • NM_024009.2:c.538C>T
  • p.Arg180X
Protein change:
R180*; ARG180TER
Links:
OMIM: 603324.0005; dbSNP: rs74315319
NCBI 1000 Genomes Browser:
rs74315319
Molecular consequence:
  • NM_001005752.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024009.3:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 2B
Synonyms:
Deafness, autosomal dominant 2b; DEAFNESS, AUTOSOMAL DOMINANT, WITH OR WITHOUT PERIPHERAL NEUROPATHY
Identifiers:
MONDO: MONDO:0012976; MedGen: C2675236; Orphanet: 90635; OMIM: 612644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027055OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1998) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ.

Nat Genet. 1998 Dec;20(4):370-3. Erratum in: Nat Genet 1999 Feb;21(2):241.

PubMed [citation]
PMID:
9843210

Details of each submission

From OMIM, SCV000027055.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family (NDF005) with autosomal dominant nonsyndromic sensorineural deafness (DFNA2B; 612644) from the Hunan province of China, Xia et al. (1998) found that 4 individuals carried a heterozygous C-to-T mutation at nucleotide 538 of GJB3, resulting in a stop codon at amino acid 180. Two male carriers, aged 51 and 23, had hearing difficulties with clinical symptoms and audiograms showing high frequency hearing loss beginning after 30 and 20 years of age, respectively. One female carrier, aged 46, had an audiogram similar to that of the 27-year-old carrier in family NDF0006 (see 603324.0004). The other female carrier, aged 43, had normal hearing.

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

Last Updated: Sep 29, 2024