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NM_000304.4(PMP22):c.78+1G>T 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:
RCV000790145.1

Allele description [Variation Report for NM_000304.4(PMP22):c.78+1G>T]

NM_000304.4(PMP22):c.78+1G>T

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.78+1G>T
HGVS:
  • NC_000017.11:g.15260649C>A
  • NG_007949.1:g.9679G>T
  • NM_000304.4:c.78+1G>TMANE SELECT
  • NM_001281455.2:c.78+1G>T
  • NM_001281456.2:c.78+1G>T
  • NM_001330143.2:c.78+1G>T
  • NM_153321.3:c.78+1G>T
  • NM_153322.3:c.78+1G>T
  • LRG_263:g.9679G>T
  • NC_000017.10:g.15163966C>A
  • NM_000304.3:c.78+1G>T
Links:
dbSNP: rs1426969421
NCBI 1000 Genomes Browser:
rs1426969421
Molecular consequence:
  • NM_000304.4:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281455.2:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281456.2:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330143.2:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153321.3:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153322.3:c.78+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000929536Inherited 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

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F.

Hum Genet. 1997 Jun;99(6):746-54.

PubMed [citation]
PMID:
9187667

Details of each submission

From Inherited Neuropathy Consortium, SCV000929536.1

#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: Jun 10, 2023