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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000383008Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link,

SCV001453869Natera, Inc.
no assertion criteria provided
Likely benign
(Apr 3, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001453869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024