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NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) AND Congenital myasthenic syndrome 4A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 2022
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:
RCV002523922.3

Allele description [Variation Report for NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)]

NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)

Gene:
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)
HGVS:
  • NC_000017.11:g.4898688_4898738delinsG
  • NG_008029.2:g.9338_9388delinsC
  • NG_028005.1:g.70349_70399delinsG
  • NM_000080.4:c.1480_*48delinsCMANE SELECT
  • NP_000071.1:p.Ter494LeuextTer?
  • LRG_1254t1:c.1480_*48delinsC
  • LRG_1254:g.9338_9388delinsC
  • LRG_1254p1:p.Ter494LeuextTer?
  • NC_000017.10:g.4801983_4802033delinsG
Links:
dbSNP: rs1555546038
NCBI 1000 Genomes Browser:
rs1555546038
Molecular consequence:
  • NM_000080.4:c.1480_*48delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000080.4:c.1480_*48delinsC - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Congenital myasthenic syndrome 4A
Synonyms:
CONGENITAL MYASTHENIC SYNDROME TYPE Ia1; Myasthenic syndrome, congenital, 4a, slow-channel; MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0011600; MedGen: C4225413; Orphanet: 590; OMIM: 605809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003003274Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 2, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003003274.1

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

Description

This sequence change disrupts the translational stop signal of the CHRNE mRNA. It is expected to extend the length of the CHRNE protein by 3 additional amino acid residues. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 20, 2024