NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) AND Dejerine-Sottas syndrome, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008954.5

Allele description [Variation Report for NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)]

NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
HGVS:
  • NC_000017.11:g.15230952C>A
  • NG_007949.1:g.39376G>T
  • NM_000304.4:c.448G>TMANE SELECT
  • NM_001281455.2:c.448G>T
  • NM_001281456.2:c.448G>T
  • NM_153321.3:c.448G>T
  • NM_153322.3:c.448G>T
  • NP_000295.1:p.Gly150Cys
  • NP_001268384.1:p.Gly150Cys
  • NP_001268385.1:p.Gly150Cys
  • NP_696996.1:p.Gly150Cys
  • NP_696997.1:p.Gly150Cys
  • LRG_263:g.39376G>T
  • NC_000017.10:g.15134269C>A
  • NM_000304.3:c.448G>T
  • NR_104017.2:n.543G>T
  • NR_104018.2:n.443G>T
  • Q01453:p.Gly150Cys
Protein change:
G150C; GLY150CYS
Links:
UniProtKB: Q01453#VAR_006378; OMIM: 601097.0013; dbSNP: rs104894624
NCBI 1000 Genomes Browser:
rs104894624
Molecular consequence:
  • NM_000304.4:c.448G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.448G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.448G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.448G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.448G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.543G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.443G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dejerine-Sottas syndrome, autosomal dominant
Identifiers:
MedGen: C4016264

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029164OMIMno assertion criteria providedPathogenic
(Mar 1, 1998)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

Ikegami T, Ikeda H, Aoyama M, Matsuki T, Imota T, Fukuuchi Y, Amano T, Toyoshima I, Ishihara Y, Endoh H, Hayasaka K.

Hum Genet. 1998 Mar;102(3):294-8.

PubMed [citation]
PMID:
9544841

Details of each submission

From OMIM, SCV000029164.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with Dejerine-Sottas syndrome (DSS; 145900), Ikegami et al. (1998) identified a mutation in the PMP22 gene using SSCP analysis. A G-to-T transversion was identified at nucleotide 636, which resulted in a glycine-to-cysteine substitution at codon 150 (G150C). The mutation created a new PvuII site.

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

Last Updated: Oct 30, 2021

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