NM_000183.3(HADHB):c.693_696dup (p.Ala233fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 2018
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:
RCV000497579.2

Allele description [Variation Report for NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)]

NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)

Gene:
HADHB:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)
HGVS:
  • NC_000002.12:g.26279197_26279200dup
  • NG_007294.1:g.39245_39248dup
  • NM_000183.3:c.693_696dupMANE SELECT
  • NM_001281512.2:c.648_651dup
  • NM_001281513.2:c.627_630dup
  • NP_000174.1:p.Ala233fs
  • NP_001268441.1:p.Ala218fs
  • NP_001268442.1:p.Ala211fs
  • NC_000002.11:g.26502064_26502065insCGCT
  • NC_000002.11:g.26502065_26502068dup
  • NM_000183.2:c.693_696dupCGCT
Protein change:
A211fs
Links:
dbSNP: rs745646607
NCBI 1000 Genomes Browser:
rs745646607
Molecular consequence:
  • NM_000183.3:c.693_696dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281512.2:c.648_651dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281513.2:c.627_630dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589334GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 17, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589334.3

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

Description

The c.693_696dupCGCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.693_696dupCGCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.693_696dupCGCT variant causes a frameshift starting with codon Alanine 233, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ala233ArgfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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

Last Updated: Sep 29, 2024