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NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) AND HADHA-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 5, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004545223.1

Allele description

NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)

Genes:
GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
HGVS:
  • NC_000002.12:g.26195184C>A
  • NG_007121.2:g.54438G>T
  • NM_000182.4:c.1528G>T
  • NM_000182.5:c.1528G>TMANE SELECT
  • NP_000173.2:p.Glu510Ter
  • LRG_747t1:c.1528G>T
  • LRG_747:g.54438G>T
  • LRG_747p1:p.Glu510Ter
  • NC_000002.11:g.26418053C>A
  • NG_007121.1:g.54437G>T
Protein change:
E510*
Links:
dbSNP: rs137852769
NCBI 1000 Genomes Browser:
rs137852769
Molecular consequence:
  • NM_000182.5:c.1528G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
HADHA-related disorder
Synonyms:
HADHA-Related Disorders; HADHA-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004778507PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 PreventionGenetics, part of Exact Sciences, SCV004778507.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The HADHA c.1528G>T variant is predicted to result in premature protein termination (p.Glu510*). To our knowledge, this variant has not been previously reported in the literature in association with disease. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in HADHA are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Sep 29, 2024