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NM_000182.5(HADHA):c.1235_1236del (p.Val412fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 6, 2022
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:
RCV002308134.2

Allele description [Variation Report for NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)]

NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)

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:
Deletion
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
HGVS:
  • NC_000002.12:g.26201306_26201307del
  • NG_007121.2:g.48316_48317del
  • NM_000182.5:c.1235_1236delMANE SELECT
  • NP_000173.2:p.Val412fs
  • LRG_747t1:c.1235_1236del
  • LRG_747:g.48316_48317del
  • LRG_747p1:p.Val412fs
  • NC_000002.11:g.26424175_26424176del
Protein change:
V412fs
Molecular consequence:
  • NM_000182.5:c.1235_1236del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mitochondrial trifunctional protein deficiency
Identifiers:
MONDO: MONDO:0012172; MedGen: C1969443; Orphanet: 746; OMIM: PS609015
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
SCV002601824Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 6, 2022) 		unknownclinical testing

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 Myriad Genetics, Inc., SCV002601824.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000182.4(HADHA):c.1235_1236delTG(V412Efs*9) is expected to be pathogenic in the context of HADHA-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HADHA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Feb 20, 2024