NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) AND Deafness, autosomal dominant 3a

Clinical significance:Likely pathogenic (Last evaluated: Jan 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411925.1

Allele description [Variation Report for NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)]

NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)

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.598G>A (p.Gly200Arg)
HGVS:
  • NC_000013.11:g.20188984C>T
  • NG_008358.1:g.8992G>A
  • NM_004004.6:c.598G>AMANE SELECT
  • NP_003995.2:p.Gly200Arg
  • LRG_1350t1:c.598G>A
  • LRG_1350:g.8992G>A
  • LRG_1350p1:p.Gly200Arg
  • NC_000013.10:g.20763123C>T
  • NM_004004.5:c.598G>A
Protein change:
G200R
Links:
dbSNP: rs786204597
NCBI 1000 Genomes Browser:
rs786204597
Molecular consequence:
  • NM_004004.6:c.598G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487491Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 21, 2016)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citation Link

Summary from all submissions

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

Citations

PubMed

[Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].

Liu J, Yu F, Dai P, Han DY, Yang SM, Wang GJ, Hong MD, Kang DY, Zhang X.

Zhonghua Yi Xue Za Zhi. 2009 Feb 24;89(7):433-7. Chinese.

PubMed [citation]
PMID:
19567088

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

Ambrosi C, Walker AE, Depriest AD, Cone AC, Lu C, Badger J, Skerrett IM, Sosinsky GE.

PLoS One. 2013;8(8):e70916. doi: 10.1371/journal.pone.0070916.

PubMed [citation]
PMID:
23967136
PMCID:
PMC3744544
See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000487491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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