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NM_000080.4(CHRNE):c.1327del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001835737.2

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 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
Name:
Congenital myasthenic syndrome 4C (CMS4C)
Synonyms:
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
Identifiers:
MONDO: MONDO:0012157; MedGen: C1837091; Orphanet: 590; OMIM: 608931
Name:
Congenital myasthenic syndrome 4B
Synonyms:
Myasthenic syndrome, congenital, 4b, fast-channel
Identifiers:
MONDO: MONDO:0014586; MedGen: C4225369; Orphanet: 590; OMIM: 616324

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097026Suma Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 Suma Genomics, SCV002097026.1

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

Last Updated: Sep 29, 2024