NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000281969.6

Allele description [Variation Report for NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)]

NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)

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.368C>A (p.Thr123Asn)

HGVS:

NC_000013.11:g.20189214G>T
NG_008358.1:g.8762C>A
NM_004004.6:c.368C>AMANE SELECT
NP_003995.2:p.Thr123Asn
LRG_1350t1:c.368C>A
LRG_1350:g.8762C>A
LRG_1350p1:p.Thr123Asn
NC_000013.10:g.20763353G>T
NM_004004.5:c.368C>A
P29033:p.Thr123Asn
c.368C>A

Protein change:

T123N

Links:

UniProtKB: P29033#VAR_015459; dbSNP: rs111033188

NCBI 1000 Genomes Browser:

rs111033188

Molecular consequence:

NM_004004.6:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:: Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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
SCV000383008	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 26043044, 24529908, 23638949, 20497192, 10983956, 24645897, 23826813, 22613756 Citation Link,
SCV001453869	Natera, Inc.	no assertion criteria provided	Likely benign (Apr 3, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000383008

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV001453869

Natera, Inc.

no assertion criteria provided

Likely benign
(Apr 3, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, Zhang T, Zhu Y, Chen Y, Guan MX.

PLoS One. 2015;10(6):e0128691. doi: 10.1371/journal.pone.0128691.

PubMed [citation]

PMID:: 26043044
PMCID:: PMC4456361

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

Bonyadi MJ, Fotouhi N, Esmaeili M.

Int J Pediatr Otorhinolaryngol. 2014 Apr;78(4):637-40. doi: 10.1016/j.ijporl.2014.01.022. Epub 2014 Jan 27.

PubMed [citation]

PMID:: 24529908

See all PubMed Citations (8)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000383008.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Natera, Inc., SCV001453869.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Mar 10, 2024

ClinVar

Relating variation to medicine