NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626952.1

Allele description [Variation Report for NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)]

NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)
HGVS:
  • NC_000010.11:g.49627735C>T
  • NG_011797.1:g.23641C>T
  • NM_001142929.1:c.707C>T
  • NM_001142933.1:c.815C>T
  • NM_001142934.1:c.707C>T
  • NM_020549.4:c.1061C>T
  • NM_020984.3:c.707C>T
  • NM_020985.3:c.707C>T
  • NM_020986.3:c.707C>T
  • NP_001136401.1:p.Thr236Met
  • NP_001136405.1:p.Thr272Met
  • NP_001136406.1:p.Thr236Met
  • NP_065574.3:p.Thr354Met
  • NP_066264.3:p.Thr236Met
  • NP_066265.3:p.Thr236Met
  • NP_066266.3:p.Thr236Met
  • NC_000010.10:g.50835781C>T
Protein change:
T236M
Links:
dbSNP: rs769234940
NCBI 1000 Genomes Browser:
rs769234940
Molecular consequence:
  • NM_001142929.1:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142933.1:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142934.1:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020549.4:c.1061C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020984.3:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020985.3:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020986.3:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Apnea, central sleep
Synonyms:
SLEEP APNEA, LETHAL CENTRAL; Central sleep apnoea
Identifiers:
MONDO: MONDO:0008807; MeSH: D020182; MedGen: C0520680; OMIM: 107640; OMIM: 207720; Human Phenotype Ontology: HP:0010536
Name:
Respiratory insufficiency
Synonyms:
progressive respiratory failure; Respiratory function loss; Respiratory impairment
Identifiers:
MedGen: C0035229; Human Phenotype Ontology: HP:0002093
Name:
Febrile seizures
Synonyms:
Febrile convulsions; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever; See all synonyms [MedGen]
Identifiers:
MedGen: C0009952; Human Phenotype Ontology: HP:0002373
Name:
Pes planus
Synonyms:
Dropped arches; Fallen arches; Flat feet; See all synonyms [MedGen]
Identifiers:
MedGen: C0016202; Human Phenotype Ontology: HP:0001763
Name:
Lactic acidosis
Synonyms:
Hyperlacticacidemia; Lactic acidemia; Lacticacidemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0006040; MedGen: C0001125; Human Phenotype Ontology: HP:0003128
Name:
External ophthalmoplegia (CPEO)
Synonyms:
Ophthalmoplegia externa; Chronic progressive external ophthalmoplegia; Progressive paralysis or weakness of muscles of eye motility; See all synonyms [MedGen]
Identifiers:
MedGen: C0162292; Human Phenotype Ontology: HP:0000544
Name:
Gastroesophageal reflux
Synonyms:
Acid reflux disease; Heartburn; Acid reflux
Identifiers:
MedGen: C4317146; Human Phenotype Ontology: HP:0002020
Name:
Decreased activity of the pyruvate dehydrogenase complex
Synonyms:
Decreased activity of the PDH complex
Identifiers:
MedGen: C1839888; Human Phenotype Ontology: HP:0002928
Name:
Progressive muscle weakness
Synonyms:
Progressive muscular weakness
Identifiers:
MedGen: C0240421; Human Phenotype Ontology: HP:0003323
Name:
Progressive ptosis
Synonyms:
Progressive drooping of upper eyelid
Identifiers:
MedGen: C1834015; Human Phenotype Ontology: HP:0007838
Name:
Aspiration pneumonia
Identifiers:
MedGen: C0032290; Human Phenotype Ontology: HP:0011951

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747655Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2017)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000747655.1

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

Last Updated: Oct 7, 2021

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