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NM_000080.4(CHRNE):c.876del (p.Ile294fs) AND Congenital myasthenic syndrome 4A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV003475710.1

Allele description [Variation Report for NM_000080.4(CHRNE):c.876del (p.Ile294fs)]

NM_000080.4(CHRNE):c.876del (p.Ile294fs)

Genes:
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
HGVS:
  • NC_000017.11:g.4900834del
  • NG_008029.2:g.7242del
  • NM_000080.4:c.876delMANE SELECT
  • NM_001145536.2:c.*301delMANE SELECT
  • NP_000071.1:p.Ile294fs
  • LRG_1254t1:c.876del
  • LRG_1254:g.7242del
  • LRG_1254p1:p.Ile294fs
  • NC_000017.10:g.4804129del
Protein change:
I294fs
Molecular consequence:
  • NM_001145536.2:c.*301del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000080.4:c.876del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004212601Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 21, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV004212601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024