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NM_005327.7(HADH):c.171C>A (p.Asp57Glu) AND Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2015
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:
RCV000008483.3

Allele description [Variation Report for NM_005327.7(HADH):c.171C>A (p.Asp57Glu)]

NM_005327.7(HADH):c.171C>A (p.Asp57Glu)

Gene:
HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q25
Genomic location:
Preferred name:
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
Other names:
D45E; NM_005327.5(HADH):c.171C>A
HGVS:
  • NC_000004.12:g.108009797C>A
  • NG_008156.2:g.25014C>A
  • NM_001184705.4:c.171C>A
  • NM_001331027.2:c.183C>A
  • NM_005327.7:c.171C>AMANE SELECT
  • NP_001171634.3:p.Asp57Glu
  • NP_001317956.2:p.Asp61Glu
  • NP_005318.6:p.Asp57Glu
  • NC_000004.11:g.108930953C>A
  • Q16836:p.Asp57Glu
Protein change:
D57E; ASP45GLU
Links:
UniProtKB: Q16836#VAR_024080; OMIM: 601609.0002; dbSNP: rs137853102
NCBI 1000 Genomes Browser:
rs137853102
Molecular consequence:
  • NM_001184705.4:c.171C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001331027.2:c.183C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005327.7:c.171C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD)
Synonyms:
3-alpha hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxylacyl-CoA dehydrogenase deficiency; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0017715; MedGen: C1291230; Orphanet: 71212; OMIM: 231530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028691OMIM
no assertion criteria provided
Pathogenic
(Aug 18, 2015) 		germlineliterature only

O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W. Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract) J. Inherit. Metab. Dis. 23 (suppl. 1): 127-only, 2000.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000028691.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

For discussion of the asp45-to-glu (D45E) mutation in the HADH gene that was found in compound heterozygous state in a patient with HADH deficiency (231530) by O'Brien et al. (2000), see 601609.0001.

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

Last Updated: Mar 30, 2024