NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) AND Congenital myasthenic syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 1998
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:: RCV000007030.3

Allele description [Variation Report for NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)]

NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)

Gene:

COLQ:collagen like tail subunit of asymmetric acetylcholinesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)

HGVS:

NC_000003.12:g.15458296T>A
NG_009032.1:g.68456A>T
NG_009032.2:g.68456A>T
NM_005677.4:c.844A>TMANE SELECT
NM_080538.2:c.814A>T
NM_080539.4:c.742A>T
NP_005668.2:p.Arg282Ter
NP_536799.1:p.Arg272Ter
NP_536800.2:p.Arg248Ter
NC_000003.11:g.15499803T>A

Protein change:

R248*; ARG282TER

Links:

OMIM: 603033.0004; dbSNP: rs121908922

NCBI 1000 Genomes Browser:

rs121908922

Molecular consequence:

NM_005677.4:c.844A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_080538.2:c.814A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_080539.4:c.742A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Congenital myasthenic syndrome 5
Synonyms:: Endplate acetylcholinesterase deficiency
Identifiers:: MONDO: MONDO:0011281; MedGen: C1864233; Orphanet: 590; OMIM: 603034

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027226	OMIM	no assertion criteria provided	Pathogenic (Aug 4, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027226

OMIM

no assertion criteria provided

Pathogenic
(Aug 4, 1998)

germline

literature only

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

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

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

Ohno K, Brengman J, Tsujino A, Engel AG.

Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9.

PubMed [citation]

PMID:: 9689136
PMCID:: PMC21394

Details of each submission

From OMIM, SCV000027226.2

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

Description

In a patient with congenital myasthenic syndrome-5 (CMS5; 603034), Ohno et al. (1998) identified compound heterozygosity for 2 mutations in the COLQ gene: an arg282-to-ter (R282X) mutation and a 1-bp deletion (1082delC; 603033.0005). The R282X mutation truncated COLQ 10 codons upstream to the C-terminal end of the collagen domain. The 1-bp deletion caused a frameshift after codon 360, predicting 64 missense codons followed by a stop codon; 1082delC spared the entire collagen domain but abolished the C-terminal domain of COLQ.

#	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: Apr 23, 2022

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