NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 21, 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:: RCV000411925.2

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]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487491	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jan 21, 2016)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 19567088, 23967136, 22567861, 24949729, 22695344, 21094084 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487491

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Jan 21, 2016)

unknown

clinical 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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000487491.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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