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NM_000166.6(GJB1):c.535T>G (p.Cys179Gly) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000789263.1

Allele description [Variation Report for NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)]

NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)

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.535T>G (p.Cys179Gly)
HGVS:
  • NC_000023.11:g.71224242T>G
  • NG_008357.1:g.14031T>G
  • NM_000166.6:c.535T>GMANE SELECT
  • NM_001097642.3:c.535T>G
  • NP_000157.1:p.Cys179Gly
  • NP_001091111.1:p.Cys179Gly
  • LRG_245t2:c.535T>G
  • LRG_245:g.14031T>G
  • LRG_245p2:p.Cys179Gly
  • NC_000023.10:g.70444092T>G
  • NM_000166.5:c.535T>G
Protein change:
C179G
Links:
dbSNP: rs1602349591
NCBI 1000 Genomes Browser:
rs1602349591
Molecular consequence:
  • NM_000166.6:c.535T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.535T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928616Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Moszyńka I, Kabzińska D, Kochański A.

Acta Myol. 2009 Oct;28(2):72-5.

PubMed [citation]
PMID:
20128140
PMCID:
PMC2858952

Details of each submission

From Inherited Neuropathy Consortium, SCV000928616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022