NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs) AND Generalized hypotonia

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416479.1

Allele description

NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs)

Genes:
HEATR4:HEAT repeat containing 4 [Gene - HGNC]
ACOT1:acyl-CoA thioesterase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs)
HGVS:
  • NC_000014.9:g.73537831_73537844delAGCCGGTGCGCGCG
  • NM_001037161.1:c.410_423delAGCCGGTGCGCGCG
  • NP_001032238.1:p.Glu137Glyfs
  • NC_000014.8:g.74004535_74004548delAGCCGGTGCGCGCG
Molecular consequence:
  • NM_001037161.1:c.410_423delAGCCGGTGCGCGCG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Generalized hypotonia
Synonyms:
Generalized muscular hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494189Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicineno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine, SCV000494189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant was identified as homozygous in an individual with congenital hypotonia and concern for mitochondrial myopathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2017

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