NM_000080.4(CHRNE):c.971del (p.Ile324fs) AND Congenital myasthenic syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001271737.1

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001453129	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

SCV001453129

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001453129.1

#	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: Sep 29, 2024

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