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NM_004004.5(GJB2):c.*1447G>A AND Nonsyndromic Hearing Loss, Recessive

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000352241.3

Allele description [Variation Report for NM_004004.5(GJB2):c.*1447G>A]

NM_004004.5(GJB2):c.*1447G>A

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.5(GJB2):c.*1447G>A
HGVS:
  • NC_000013.11:g.20187454C>T
  • NG_008358.1:g.10522G>A
  • LRG_1350:g.10522G>A
  • NC_000013.10:g.20761593C>T
Links:
dbSNP: rs11839674
NCBI 1000 Genomes Browser:
rs11839674

Condition(s)

Name:
Nonsyndromic Hearing Loss, Recessive
Identifiers:
MedGen: CN239439

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000483442Illumina Laboratory Services,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000483442.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022

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