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NM_000080.4(CHRNE):c.501-16G>A AND Congenital myasthenic syndrome 4C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2005
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:
RCV000020030.28

Allele description [Variation Report for NM_000080.4(CHRNE):c.501-16G>A]

NM_000080.4(CHRNE):c.501-16G>A

Genes:
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000080.4(CHRNE):c.501-16G>A
HGVS:
  • NC_000017.11:g.4901641C>T
  • NG_008029.2:g.6435G>A
  • NM_000080.4:c.501-16G>AMANE SELECT
  • NM_001145536.2:c.*1108C>TMANE SELECT
  • LRG_1254t1:c.501-16G>A
  • LRG_1254:g.6435G>A
  • NC_000017.10:g.4804936C>T
  • NM_000080.3:c.501-16G>A
Nucleotide change:
IVS5AS, G-A, -16
Links:
OMIM: 100725.0020; dbSNP: rs879255563
NCBI 1000 Genomes Browser:
rs879255563
Molecular consequence:
  • NM_001145536.2:c.*1108C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000080.4:c.501-16G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Congenital myasthenic syndrome 4C (CMS4C)
Synonyms:
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
Identifiers:
MONDO: MONDO:0012157; MedGen: C1837091; Orphanet: 590; OMIM: 608931

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040328OMIM
no assertion criteria provided
Pathogenic
(Aug 9, 2005) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A.

Neurology. 2005 Aug 9;65(3):463-5.

PubMed [citation]
PMID:
16087917

Details of each submission

From OMIM, SCV000040328.3

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

Description

In a patient with a mild form of congenital myasthenic syndrome-4C associated with AChR deficiency (CMS4C; 608931), Muller et al. (2005) identified compound heterozygosity for 2 mutations in the CHRNE gene: a G-to-A transition in intron 5, resulting in a premature termination codon after 19 amino acids in the extracellular part of the protein, and a 1-bp deletion (100725.0006). However, detailed RNA analysis showed that the patient had 4 CHRNE mRNA transcripts differing at the exon 5/exon 6 boundary, 2 of which were generated by use of a cryptic donor site in exon 5.

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

Last Updated: Oct 8, 2024