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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 16, 2020
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:: RCV000235026.4

Allele description

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 (CMS)
Identifiers:: MONDO: MONDO:0018940; MeSH: D020294; MedGen: C0751882; OMIM: PS601462

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292398	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10534268, 15322984
SCV001453122	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292398

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001453122

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H.

Neurology. 1999 Oct 22;53(7):1564-9.

PubMed [citation]

PMID:: 10534268

Mutation history of the roma/gypsies.

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L.

Am J Hum Genet. 2004 Oct;75(4):596-609. Epub 2004 Aug 20.

PubMed [citation]

PMID:: 15322984
PMCID:: PMC1182047

Details of each submission

From GeneReviews, SCV000292398.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

From Natera, Inc., SCV001453122.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine