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NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2023
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:
RCV002254101.4

Allele description [Variation Report for NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)]

NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)

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.464A>G (p.Tyr155Cys)
HGVS:
  • NC_000013.11:g.20189118T>C
  • NG_008358.1:g.8858A>G
  • NM_004004.6:c.464A>GMANE SELECT
  • NP_003995.2:p.Tyr155Cys
  • LRG_1350t1:c.464A>G
  • LRG_1350:g.8858A>G
  • LRG_1350p1:p.Tyr155Cys
  • NC_000013.10:g.20763257T>C
  • NM_004004.5:c.464A>G
Protein change:
Y155C
Links:
dbSNP: rs776335807
NCBI 1000 Genomes Browser:
rs776335807
Molecular consequence:
  • NM_004004.6:c.464A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525351GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002525351.4

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

Description

Reported in the heterozygous state in an individual with hearing loss as well as in his unaffected mother (PMID: 29152271); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29152271)

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

Last Updated: Oct 8, 2024