U.S. flag

An official website of the United States government

NM_000080.4(CHRNE):c.1327del AND Congenital myasthenic syndrome 1A

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003338479.3

Allele description [Variation Report for NM_000080.4(CHRNE):c.1327del]

NM_000080.4(CHRNE):c.1327del

Genes:
MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
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.1327del
Other names:
epsilon1267delG; ε1267delG
HGVS:
  • NC_000017.11:g.4898892del
  • NG_008029.2:g.9185del
  • NG_028005.1:g.70553del
  • NM_000080.4:c.1327delMANE SELECT
  • NP_000071.1:p.Glu443LysfsTer64
  • LRG_1254t1:c.1327del
  • LRG_1254:g.9185del
  • NC_000017.10:g.4802186del
  • NC_000017.10:g.4802187del
  • NM_000080.3:c.1327delG
  • NM_000080.4:c.1327delGMANE SELECT
  • p.Glu443Lysfs*64
Links:
OMIM: 100725.0012; dbSNP: rs763258280
NCBI 1000 Genomes Browser:
rs763258280
Molecular consequence:
  • NM_000080.4:c.1327del - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
Unknown function

Condition(s)

Name:
Congenital myasthenic syndrome 1A (CMS1A)
Synonyms:
CMS IIa; Myasthenic syndrome, congenital, type IIa; MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
Identifiers:
MONDO: MONDO:0011088; MedGen: C2931107; OMIM: 601462

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004047730Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004047730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The frameshift variant c.1327del (p.Glu443LysfsTer64) in CHRNE gene has been reported to segregate with autosomal recessive congenital myasthenic syndrome (CMS) in many families (Natera-de Benito D et.al.,2016). It is a common cause of autosomal recessive CMS in several populations, and has been reported to be a founder mutation in the Roma population (Hantaï D et.al.,2004).This variant has been reported to the ClinVar database as Pathogenic. The p.Glu443LysfsTer64 variant is reported with the allele frequency 0.01276% in gnomAD exomes and novel in 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 443, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Glu443LysfsTer64. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic

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

Last Updated: Oct 20, 2024