NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2013
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:: RCV000150742.4

Allele description [Variation Report for NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)]

NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)

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.538C>T (p.Arg180Ter)

HGVS:

NC_000001.11:g.34785300C>T
NG_008309.1:g.9112C>T
NM_001005752.2:c.538C>T
NM_024009.3:c.538C>TMANE SELECT
NP_001005752.1:p.Arg180Ter
NP_076872.1:p.Arg180Ter
NC_000001.10:g.35250901C>T
NM_024009.2:c.538C>T
p.Arg180X

Protein change:

R180*; ARG180TER

Links:

OMIM: 603324.0005; dbSNP: rs74315319

NCBI 1000 Genomes Browser:

rs74315319

Molecular consequence:

NM_001005752.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024009.3:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198180	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Aug 15, 2013)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 9843210, 23638949, 16077902, 21204020, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000198180

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Aug 15, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ.

Nat Genet. 1998 Dec;20(4):370-3. Erratum in: Nat Genet 1999 Feb;21(2):241.

PubMed [citation]

PMID:: 9843210

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G, Chen D, Wang H, Li S, Zhang J, Feng Z, Guo L, Yang Z, Yang S, Sun C, Zhang X, Ma D.

Acta Otolaryngol. 2013 Aug;133(8):833-41. doi: 10.3109/00016489.2013.777160. Epub 2013 May 3.

PubMed [citation]

PMID:: 23638949

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198180.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

The Arg180X variant in GJB3 has been reported in two individuals with hearing lo ss (Xia 1998, Yao 2013). This variant was shown to segregate in one individual w ith hearing loss but was also seen in one unaffected family member (Xia 1998). This nonsense variant leads to a premature termination codon at position 180 and the variant has been shown to impact protein function (He 2005). However, evide nce is lacking for a clear association of the GJB3 gene with hearing loss in eit her a recessive or dominant manner.

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine