NM_000080.4(CHRNE):c.1327del AND not provided

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

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Nov 10, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000516854.25

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

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612746	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Dec 30, 2016)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10534268, 15322984, 10514102, 9668239, 27634344, 26467025
SCV000709960	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 10, 2021)	germline	clinical testing	Citation Link,
SCV001249976	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2020)	germline	clinical testing	Citation Link,
SCV002035189	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV002038349	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	8	not provided	not provided	not provided	not provided	clinical testing
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

See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics Inc, SCV000612746.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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

From GeneDx, SCV000709960.5

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

Description

Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 51 amino acids are lost and replaced with 63 incorrect amino acids; This variant is associated with the following publications: (PMID: 10514102, 10496269, 15367858, 15322984, 10534268, 9668239, 27634344, 28464723, 29056292, 29054425, 30369941, 31589614, 33193787, 34426522, 34008892, 32070632, 31407473)

#	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 CeGaT Center for Human Genetics Tuebingen, SCV001249976.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	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	yes	not provided	not provided	not provided		8	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV002035189.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV002038349.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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