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NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 18, 2016
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:
RCV000411497.10

Allele description [Variation Report for NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)]

NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)

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.34G>T (p.Gly12Cys)
Other names:
NM_004004.5(GJB2):c.34G>T(p.Gly12Cys); NM_004004.5(GJB2):c.34G>T; NM_004004.6(GJB2):c.34G>T
HGVS:
  • NC_000013.11:g.20189548C>A
  • NG_008358.1:g.8428G>T
  • NM_004004.6:c.34G>TMANE SELECT
  • NP_003995.2:p.Gly12Cys
  • NP_003995.2:p.Gly12Cys
  • LRG_1350t1:c.34G>T
  • LRG_1350:g.8428G>T
  • LRG_1350p1:p.Gly12Cys
  • NC_000013.10:g.20763687C>A
  • NM_004004.5:c.34G>T
  • c.34G>T
  • p.GLY12CYS
Protein change:
G12C
Links:
dbSNP: rs104894408
NCBI 1000 Genomes Browser:
rs104894408
Molecular consequence:
  • NM_004004.6:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
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
SCV000487568Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Apr 18, 2016) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ.

Hum Mutat. 2004 Oct;24(4):305-11.

PubMed [citation]
PMID:
15365987
PMCID:
PMC10519371

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.

Hernández-Juárez AA, Lugo-Trampe Jde J, Campos-Acevedo LD, Lugo-Trampe A, Treviño-González JL, de-la-Cruz-Ávila I, Martínez-de-Villarreal LE.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2107-12. doi: 10.1016/j.ijporl.2014.09.016. Epub 2014 Sep 28.

PubMed [citation]
PMID:
25288386
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000487568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024