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NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) AND Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 9, 2016
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:
RCV000410253.2

Allele description [Variation Report for NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)]

NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)

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.2071G>T (p.Glu691Ter)
HGVS:
  • NC_000002.12:g.26191558C>A
  • NG_007121.1:g.58063G>T
  • NM_000182.5:c.2071G>TMANE SELECT
  • NP_000173.2:p.Glu691Ter
  • LRG_747t1:c.2071G>T
  • LRG_747p1:p.Glu691Ter
  • NC_000002.11:g.26414427C>A
  • NM_000182.4:c.2071G>T
Protein change:
E691*
Links:
dbSNP: rs1057517132
NCBI 1000 Genomes Browser:
rs1057517132
Molecular consequence:
  • NM_000182.5:c.2071G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486797Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Aug 9, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486797.2

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

Last Updated: Dec 24, 2022