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NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) AND Mitochondrial trifunctional protein deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 11, 2020
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:
RCV001256193.1

Allele description

NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs)

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:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs)
HGVS:
  • NC_000002.12:g.26191492_26191496dup
  • NG_007121.1:g.58126_58130dup
  • NM_000182.5:c.2134_2138dupMANE SELECT
  • NP_000173.2:p.Gly715fs
  • LRG_747t1:c.2134_2138dup
  • LRG_747p1:p.Gly715fs
  • NC_000002.11:g.26414361_26414365dup
  • NM_000182.4:c.2134_2138dupCCTTG
Protein change:
G715fs
Links:
dbSNP: rs1669501514
NCBI 1000 Genomes Browser:
rs1669501514
Molecular consequence:
  • NM_000182.5:c.2134_2138dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Mitochondrial trifunctional protein deficiency
Identifiers:
MONDO: MONDO:0012172; MedGen: C1969443; Orphanet: 746; OMIM: PS609015

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433000Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 11, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001433000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024