NM_020549.5(CHAT):c.258G>A (p.Ser86=) AND Familial infantile myasthenia

Clinical significance:Likely benign (Last evaluated: Sep 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001506274.1

Allele description [Variation Report for NM_020549.5(CHAT):c.258G>A (p.Ser86=)]

NM_020549.5(CHAT):c.258G>A (p.Ser86=)

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.258G>A (p.Ser86=)
HGVS:
  • NC_000010.11:g.49614447G>A
  • NG_011797.1:g.10353G>A
  • NG_053144.1:g.9147G>A
  • NM_001142929.2:c.-97G>A
  • NM_001142933.2:c.-59G>A
  • NM_001142934.2:c.-167G>A
  • NM_020549.4:c.258G>A
  • NM_020549.5:c.258G>AMANE SELECT
  • NM_020984.4:c.-68-2055G>A
  • NM_020985.4:c.-97G>A
  • NM_020986.4:c.-69+1245G>A
  • NP_065574.3:p.Ser86=
  • NP_065574.4:p.Ser86=
  • NC_000010.10:g.50822493G>A
  • NC_000010.10:g.50822493G>A
Links:
dbSNP: rs778636468
NCBI 1000 Genomes Browser:
rs778636468
Molecular consequence:
  • NM_001142929.2:c.-97G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142933.2:c.-59G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142934.2:c.-167G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020985.4:c.-97G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020984.4:c.-68-2055G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020986.4:c.-69+1245G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020549.4:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020549.5:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001711193Invitaecriteria provided, single submitter
Likely benign
(Sep 27, 2018)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001711193.1

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

Last Updated: Oct 25, 2021

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