NM_000080.4(CHRNE):c.971del (p.Ile324fs) 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:: RCV000020016.30

Allele description [Variation Report for NM_000080.4(CHRNE):c.971del (p.Ile324fs)]

NM_000080.4(CHRNE):c.971del (p.Ile324fs)

Gene:

CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000080.4(CHRNE):c.971del (p.Ile324fs)

HGVS:

NC_000017.11:g.4899529del
NG_008029.2:g.8547del
NG_028005.1:g.71190del
NM_000080.4:c.971delMANE SELECT
NP_000071.1:p.Ile324fs
LRG_1254t1:c.971del
LRG_1254:g.8547del
LRG_1254p1:p.Ile324fs
NC_000017.10:g.4802824del
NM_000080.3:c.971del
NM_000080.3:c.971delT
NM_000080.4:c.971delTMANE SELECT

Protein change:

I324fs

Links:

OMIM: 100725.0006; dbSNP: rs879255562

NCBI 1000 Genomes Browser:

rs879255562

Molecular consequence:

NM_000080.4:c.971del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040314	OMIM	no assertion criteria provided	Pathogenic (Aug 9, 2005)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 11030414, 9443457, 16087917

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040314

OMIM

no assertion criteria provided

Pathogenic
(Aug 9, 2005)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.

Sieb JP, Kraner S, Rauch M, Steinlein OK.

Hum Genet. 2000 Aug;107(2):160-4.

PubMed [citation]

PMID:: 11030414

Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency.

Sieb JP, Dörfler P, Tzartos S, Wewer UM, Rüegg MA, Meyer D, Baumann I, Lindemuth R, Jakschik J, Ries F.

Neurology. 1998 Jan;50(1):54-61. Erratum in: Neurology 1998 Mar;50(3):838.

PubMed [citation]

PMID:: 9443457

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000040314.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

Sieb et al. (2000) found that a brother and sister with congenital myasthenic syndrome-4C associated with AChR deficiency (CMS4C; 608931) were compound heterozygotes for a 1-bp deletion (c.911delT) and a splice site mutation (IVS4+1G-A; 100725.0007) in the CHRNE gene. Both mutations resulted in truncation of the protein. The family had previously been reported by Sieb et al. (1998).

In a patient with a mild form of postsynaptic congenital myasthenic syndrome, Muller et al. (2005) identified compound heterozygosity for 2 mutations in the CHRNE gene: c.911delT and a splice site mutation (100725.0020).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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