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NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Hearing loss

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2017
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:
RCV000678867.9

Allele description [Variation Report for NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)]

NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)

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.139G>T (p.Glu47Ter)
HGVS:
  • NC_000013.11:g.20189443C>A
  • NG_008358.1:g.8533G>T
  • NM_004004.6:c.139G>TMANE SELECT
  • NP_003995.2:p.Glu47Ter
  • LRG_1350t1:c.139G>T
  • LRG_1350:g.8533G>T
  • LRG_1350p1:p.Glu47Ter
  • NC_000013.10:g.20763582C>A
  • NM_004004.5:c.139G>T
  • NP_003995.2:p.Glu47*
  • c.139G>T
  • p.(Glu47*)
  • p.Glu47X
Protein change:
E47*; GLU47TER
Links:
OMIM: 121011.0006; dbSNP: rs104894398
NCBI 1000 Genomes Browser:
rs104894398
Molecular consequence:
  • NM_004004.6:c.139G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hearing loss
Identifiers:
MedGen: C3887873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000805060Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Jan 10, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024