NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 18, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000235491.1

Allele description [Variation Report for NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)]

NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
HGVS:
  • NC_000023.11:g.71223839G>C
  • NG_008357.1:g.13628G>C
  • NM_000166.6:c.132G>CMANE SELECT
  • NM_001097642.3:c.132G>C
  • NP_000157.1:p.Trp44Cys
  • NP_001091111.1:p.Trp44Cys
  • LRG_245t2:c.132G>C
  • LRG_245:g.13628G>C
  • LRG_245p2:p.Trp44Cys
  • NC_000023.10:g.70443689G>C
  • NM_000166.5:c.132G>C
Protein change:
W44C
Links:
dbSNP: rs879253935
NCBI 1000 Genomes Browser:
rs879253935
Molecular consequence:
  • NM_000166.6:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292852GeneDxcriteria provided, single submitter
Likely pathogenic
(May 18, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292852.9

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

Description

The W44C variant has been reported previously in association with CMTX1 (Stenson et al., 2014). Additionally, a different amino acid substitution at the same position (W44L) and many nearby missense variant (A40T/V, E41K/D, S42C, V43M, D46G, E47G, S49P/Y) have been published in association with CMT (Stenson et al., 2014). W44C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W44C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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

Last Updated: Oct 30, 2021

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