NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000594940.1

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000703278EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Dec 1, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.

Shames I, Fraser A, Colby J, Orfali W, Snipes GJ.

J Neuropathol Exp Neurol. 2003 Jul;62(7):751-64.

PubMed [citation]
PMID:
12901701

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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703278.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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