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NM_004004.6(GJB2):c.546G>A (p.Val182=) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Likely 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:
RCV001113809.4

Allele description [Variation Report for NM_004004.6(GJB2):c.546G>A (p.Val182=)]

NM_004004.6(GJB2):c.546G>A (p.Val182=)

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.546G>A (p.Val182=)
HGVS:
  • NC_000013.11:g.20189036C>T
  • NG_008358.1:g.8940G>A
  • NM_004004.6:c.546G>AMANE SELECT
  • NP_003995.2:p.Val182=
  • LRG_1350t1:c.546G>A
  • LRG_1350:g.8940G>A
  • LRG_1350p1:p.Val182=
  • NC_000013.10:g.20763175C>T
  • NM_004004.5:c.546G>A
Links:
dbSNP: rs752236261
NCBI 1000 Genomes Browser:
rs752236261
Molecular consequence:
  • NM_004004.6:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001271605Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

PubMed (3)
[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

Connexin 26: required for normal auditory function.

Kelley PM, Cohn E, Kimberling WJ.

Brain Res Brain Res Rev. 2000 Apr;32(1):184-8. Review.

PubMed [citation]
PMID:
10751669

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC.

Hum Mutat. 1998;11(5):387-94.

PubMed [citation]
PMID:
9600457
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001271605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

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

Last Updated: Sep 29, 2024