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NM_004004.6(GJB2):c.*1C>T AND Autosomal dominant nonsyndromic hearing loss 3A

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:
RCV000344717.13

Allele description [Variation Report for NM_004004.6(GJB2):c.*1C>T]

NM_004004.6(GJB2):c.*1C>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.*1C>T
Other names:
c.*1C>T
HGVS:
  • NC_000013.11:g.20188900G>A
  • NG_008358.1:g.9076C>T
  • NM_004004.6:c.*1C>TMANE SELECT
  • LRG_1350t1:c.*1C>T
  • LRG_1350:g.9076C>T
  • NC_000013.10:g.20763039G>A
  • NM_004004.5:c.*1C>T
Links:
dbSNP: rs111033327
NCBI 1000 Genomes Browser:
rs111033327
Molecular consequence:
  • NM_004004.6:c.*1C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000382989Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

PubMed (5)
[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

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

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, et al.

Genet Med. 2007 Jul;9(7):413-26.

PubMed [citation]
PMID:
17666888
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000382989.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

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: May 12, 2024