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NM_020549.5(CHAT):c.1839+71C>T AND Familial infantile myasthenia

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001578879.2

Allele description [Variation Report for NM_020549.5(CHAT):c.1839+71C>T]

NM_020549.5(CHAT):c.1839+71C>T

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.5(CHAT):c.1839+71C>T
HGVS:
  • NC_000010.11:g.49655519C>T
  • NG_011797.1:g.51425C>T
  • NM_001142929.2:c.1485+71C>T
  • NM_001142933.2:c.1593+71C>T
  • NM_001142934.2:c.1485+71C>T
  • NM_020549.5:c.1839+71C>TMANE SELECT
  • NM_020984.4:c.1485+71C>T
  • NM_020985.4:c.1485+71C>T
  • NM_020986.4:c.1485+71C>T
  • NC_000010.10:g.50863565C>T
  • NM_020549.4:c.1839+71C>T
Links:
dbSNP: rs7076926
NCBI 1000 Genomes Browser:
rs7076926
Molecular consequence:
  • NM_001142929.2:c.1485+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142933.2:c.1593+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142934.2:c.1485+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020549.5:c.1839+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020984.4:c.1485+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020985.4:c.1485+71C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020986.4:c.1485+71C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial infantile myasthenia (CMS6)
Synonyms:
Congenital myasthenic syndrome with episodic apnea; Myasthenic syndrome congenital associated with episodic apnea; Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009689; MedGen: C0393929; Orphanet: 590; OMIM: 254210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001806232Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001806232.1

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

Last Updated: Dec 24, 2023