NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) AND Deafness, autosomal recessive 1A

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:
2 submissions [Details]
Record status:
current
Accession:
RCV000210857.2

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]
Observations:
1

Condition(s)

Name:
Deafness, autosomal recessive 1A (DFNB1A)
Synonyms:
GJB2-related deafness; Deafness nonsyndromic, Connexin 26 linked; 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267104Institut Pasteur du Marocno assertion criteria providedPathogenic
(Apr 1, 2016)
inheritedclinical testing

SCV000487490Counsylcriteria 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
inheritedyes1not providednot providednot providednot providedclinical testing
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 Institut Pasteur du Maroc, SCV000267104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000487490.1

#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: Aug 27, 2021

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