U.S. flag

An official website of the United States government

NM_004004.6(GJB2):c.*104A>T AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Benign (1 submission)
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:
RCV000272922.5

Allele description [Variation Report for NM_004004.6(GJB2):c.*104A>T]

NM_004004.6(GJB2):c.*104A>T

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.*104A>T
HGVS:
  • NC_000013.11:g.20188797T>A
  • NG_008358.1:g.9179A>T
  • NM_004004.6:c.*104A>TMANE SELECT
  • LRG_1350t1:c.*104A>T
  • LRG_1350:g.9179A>T
  • NC_000013.10:g.20762936T>A
  • NM_004004.5:c.*104A>T
Links:
dbSNP: rs7337074
NCBI 1000 Genomes Browser:
rs7337074
Molecular consequence:
  • NM_004004.6:c.*104A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000382976Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.

Chora JR, Matos TD, Martins JH, Alves MC, Andrade SM, Silva LF, Ribeiro CA, Antunes MC, Fialho MG, Caria MH.

Int J Pediatr Otorhinolaryngol. 2010 Oct;74(10):1135-9. doi: 10.1016/j.ijporl.2010.06.014. Epub 2010 Jul 22.

PubMed [citation]
PMID:
20650534

Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.

Matos TD, Simões-Teixeira H, Caria H, Cascão R, Rosa H, O'Neill A, Dias O, Andrea ME, Kelsell DP, Fialho G.

Genet Res Int. 2011;2011:827469. doi: 10.4061/2011/827469. Epub 2011 Oct 5.

PubMed [citation]
PMID:
22567369
PMCID:
PMC3335567

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000382976.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Dec 24, 2023