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NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 21, 2024
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:
RCV001382072.7

Allele description [Variation Report for NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)]

NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)

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.230G>A (p.Trp77Ter)
HGVS:
  • NC_000013.11:g.20189352C>T
  • NG_008358.1:g.8624G>A
  • NM_004004.6:c.230G>AMANE SELECT
  • NP_003995.2:p.Trp77Ter
  • LRG_1350t1:c.230G>A
  • LRG_1350:g.8624G>A
  • LRG_1350p1:p.Trp77Ter
  • NC_000013.10:g.20763491C>T
  • NM_004004.5:c.230G>A
  • p.Trp77X
Protein change:
W77*
Links:
dbSNP: rs104894395
NCBI 1000 Genomes Browser:
rs104894395
Molecular consequence:
  • NM_004004.6:c.230G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001580694Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 21, 2024) 		germlineclinical testing

PubMed (5)
[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

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

Hwa HL, Ko TM, Hsu CJ, Huang CH, Chiang YL, Oong JL, Chen CC, Hsu CK.

Genet Med. 2003 May-Jun;5(3):161-5.

PubMed [citation]
PMID:
12792423

Children with GJB2 gene mutations have various audiological phenotypes.

Wang X, Huang L, Zhao X, Wang X, Cheng X, Du Y, Liu D.

Biosci Trends. 2018 Sep 19;12(4):419-425. doi: 10.5582/bst.2018.01159. Epub 2018 Aug 27.

PubMed [citation]
PMID:
30146550
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001580694.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Trp77*) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acid(s) of the GJB2 protein. This variant is present in population databases (rs104894395, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with autosomal recessive nonsyndromic hearing loss (PMID: 12792423, 30146550). ClinVar contains an entry for this variant (Variation ID: 189176). This variant disrupts a region of the GJB2 protein in which other variant(s) (p.Lys112Glufs*2) have been determined to be pathogenic (PMID: 9529365, 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