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NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) 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:
RCV000790147.1

Allele description [Variation Report for NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)]

NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)

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.419G>A (p.Trp140Ter)
HGVS:
  • NC_000017.11:g.15230981C>T
  • NG_007949.1:g.39347G>A
  • NM_000304.4:c.419G>AMANE SELECT
  • NM_001281455.2:c.419G>A
  • NM_001281456.2:c.419G>A
  • NM_153321.3:c.419G>A
  • NM_153322.3:c.419G>A
  • NP_000295.1:p.Trp140Ter
  • NP_001268384.1:p.Trp140Ter
  • NP_001268385.1:p.Trp140Ter
  • NP_696996.1:p.Trp140Ter
  • NP_696997.1:p.Trp140Ter
  • LRG_263:g.39347G>A
  • NC_000017.10:g.15134298C>T
  • NM_000304.3:c.419G>A
  • NR_104017.2:n.514G>A
  • NR_104018.2:n.414G>A
Protein change:
W140*
Links:
dbSNP: rs1597597534
NCBI 1000 Genomes Browser:
rs1597597534
Molecular consequence:
  • NR_104017.2:n.514G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.414G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000304.4:c.419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281455.2:c.419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281456.2:c.419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153321.3:c.419G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153322.3:c.419G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000929538Inherited 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

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P.

Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189.

PubMed [citation]
PMID:
22006697

Details of each submission

From Inherited Neuropathy Consortium, SCV000929538.1

#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: Feb 14, 2024