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NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) AND Deafness, autosomal dominant 3a

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 22, 2016
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:
RCV000018559.27

Allele description

NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)

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.131G>C (p.Trp44Ser)
HGVS:
  • NC_000013.11:g.20189451C>G
  • NG_008358.1:g.8525G>C
  • NM_004004.6:c.131G>C
  • NP_003995.2:p.Trp44Ser
  • NP_003995.2:p.Trp44Ser
  • NP_003995.2:p.Trp44Ser
  • NC_000013.10:g.20763590C>G
  • NM_004004.5:c.131G>C
  • P29033:p.Trp44Ser
Protein change:
W44S; TRP44SER
Links:
UniProtKB: P29033#VAR_032749; OMIM: 121011.0031; dbSNP: rs104894413
NCBI 1000 Genomes Browser:
rs104894413
Molecular consequence:
  • NM_004004.6:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal dominant 3a (DFNA3A)
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038841OMIM
no assertion criteria provided
Pathogenic
(Apr 15, 2003) 		germlineliterature only

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

SCV000574683GeneReviews
no assertion criteria provided
Pathogenic
(Dec 22, 2016) 		germlineliterature only

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A.

Hum Mol Genet. 2003 Apr 15;12(8):805-12.

PubMed [citation]
PMID:
12668604

Details of each submission

From OMIM, SCV000038841.1

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

Description

Marziano et al. (2003) stated that autosomal dominant nonsyndromic sensorineural deafness-3 (601544) can be caused by a trp44-to-ser (W44S) mutation in the GJB2 gene.

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

From GeneReviews, SCV000574683.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2020