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NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
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:
RCV000770824.1

Allele description [Variation Report for NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)]

NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)

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.8G>A (p.Trp3Ter)
HGVS:
  • NC_000001.11:g.34784770G>A
  • NG_008309.1:g.8582G>A
  • NM_001005752.2:c.8G>A
  • NM_024009.3:c.8G>AMANE SELECT
  • NP_001005752.1:p.Trp3Ter
  • NP_076872.1:p.Trp3Ter
  • NC_000001.10:g.35250371G>A
Protein change:
W3*
Links:
dbSNP: rs1557659237
NCBI 1000 Genomes Browser:
rs1557659237
Molecular consequence:
  • NM_001005752.2:c.8G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024009.3:c.8G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:
Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902323Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
no assertion criteria provided
Pathogenic
(Feb 26, 2019) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2023