NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) AND Charcot-Marie-Tooth disease

Clinical significance:Likely pathogenic (Last evaluated: Jun 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000512762.2

Allele description [Variation Report for NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)]

NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)

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.50C>G (p.Ser17Cys)
HGVS:
  • NC_000023.11:g.71223757C>G
  • NG_008357.1:g.13546C>G
  • NM_000166.6:c.50C>GMANE SELECT
  • NM_001097642.2:c.50C>G
  • NM_001097642.3:c.50C>G
  • NP_000157.1:p.Ser17Cys
  • NP_001091111.1:p.Ser17Cys
  • NP_001091111.1:p.Ser17Cys
  • LRG_245t1:c.50C>G
  • LRG_245t2:c.50C>G
  • LRG_245:g.13546C>G
  • LRG_245p1:p.Ser17Cys
  • LRG_245p2:p.Ser17Cys
  • NC_000023.10:g.70443607C>G
  • NM_000166.5:c.50C>G
Protein change:
S17C
Links:
dbSNP: rs1555937009
NCBI 1000 Genomes Browser:
rs1555937009
Molecular consequence:
  • NM_000166.6:c.50C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.2:c.50C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.50C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000608286Department of Human Genetics, University Hospital Magdeburgcriteria provided, single submitter
Likely pathogenic
(Jun 20, 2017)
germlineclinical testing

SCV000928615Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedliterature only, clinical testing

Citations

PubMed

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E.

J Hum Genet. 2008;53(6):529-533. doi: 10.1007/s10038-008-0280-4. Epub 2008 Apr 1.

PubMed [citation]
PMID:
18379723

Details of each submission

From Department of Human Genetics, University Hospital Magdeburg, SCV000608286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

Two affected brothers

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Inherited Neuropathy Consortium, SCV000928615.1

#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: Nov 27, 2021

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