U.S. flag

An official website of the United States government

NM_020549.5(CHAT):c.119G>T (p.Gly40Val) AND Familial infantile myasthenia

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 1, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000806042.12

Allele description [Variation Report for NM_020549.5(CHAT):c.119G>T (p.Gly40Val)]

NM_020549.5(CHAT):c.119G>T (p.Gly40Val)

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.119G>T (p.Gly40Val)
HGVS:
  • NC_000010.11:g.49614308G>T
  • NG_011797.1:g.10214G>T
  • NG_053144.1:g.9008G>T
  • NM_001142929.2:c.-236G>T
  • NM_001142933.2:c.-198G>T
  • NM_001142934.2:c.-306G>T
  • NM_020549.5:c.119G>TMANE SELECT
  • NM_020984.4:c.-68-2194G>T
  • NM_020985.4:c.-236G>T
  • NM_020986.4:c.-69+1106G>T
  • NP_065574.3:p.Gly40Val
  • NP_065574.4:p.Gly40Val
  • NC_000010.10:g.50822354G>T
  • NM_020549.4:c.119G>T
Protein change:
G40V
Links:
dbSNP: rs776411377
NCBI 1000 Genomes Browser:
rs776411377
Molecular consequence:
  • NM_001142929.2:c.-236G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142933.2:c.-198G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142934.2:c.-306G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020985.4:c.-236G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020984.4:c.-68-2194G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020986.4:c.-69+1106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020549.5:c.119G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000946022Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Feb 1, 2024)
germlineclinical testing

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

SCV003831680Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Oct 29, 2019)
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Invitae, SCV000946022.6

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

From Revvity Omics, Revvity, SCV003831680.2

#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: Mar 16, 2024