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NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV001755751.2

Allele description [Variation Report for NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)]

NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)

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.475G>A (p.Asp159Asn)
HGVS:
  • NC_000013.11:g.20189107C>T
  • NG_008358.1:g.8869G>A
  • NM_004004.6:c.475G>AMANE SELECT
  • NP_003995.2:p.Asp159Asn
  • LRG_1350t1:c.475G>A
  • LRG_1350:g.8869G>A
  • LRG_1350p1:p.Asp159Asn
  • NC_000013.10:g.20763246C>T
  • NM_004004.5:c.475G>A
Protein change:
D159N
Links:
dbSNP: rs373684994
NCBI 1000 Genomes Browser:
rs373684994
Molecular consequence:
  • NM_004004.6:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001986169GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 19, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986169.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in patients with hearing loss in published literature; limited information is available for these patients, and the variant was observed with no other GJB2 variant in at least one case (Cryns et al., 2004; Snoeckx et al., 2005; Dai et al., 2009; Qing et al., 2015); In vitro functional studies suggest the variant does not affect voltage-activation of hemichannels; however, data was not available for review (Daniel et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25087612, 19366456, 25493717, 16380907, 14985372, 25388846, 17077310, 17666888, 17041943)

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

Last Updated: Dec 24, 2023