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NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) AND Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 8, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001829857.1

Allele description [Variation Report for NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)]

NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)

Gene:
HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
HGVS:
  • NC_000001.11:g.23820533G>A
  • NG_013061.1:g.9927C>T
  • NM_000191.3:c.121C>TMANE SELECT
  • NM_001166059.2:c.121C>T
  • NP_000182.2:p.Arg41Ter
  • NP_001159531.1:p.Arg41Ter
  • NC_000001.10:g.24147023G>A
  • NM_000191.2:c.121C>T
Protein change:
R41*
Links:
dbSNP: rs770225915
NCBI 1000 Genomes Browser:
rs770225915
Molecular consequence:
  • NM_000191.3:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166059.2:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms:
Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency
Identifiers:
MONDO: MONDO:0012173; MedGen: C3711645; Orphanet: 5; OMIM: 609016

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094169Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Feb 8, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002094169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025