NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185906.2

Allele description [Variation Report for NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)]

NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)
HGVS:
  • NC_000004.12:g.158680483dupT
  • NG_007078.2:g.13142dup
  • NM_001281737.1:c.35-1712dup
  • NM_004453.3:c.51dupT
  • NP_004444.2:p.Ala18Cysfs
  • NC_000004.11:g.159601635_159601636insT
  • NC_000004.11:g.159601635dupT
  • NM_004453.2:c.51dupT
  • p.A18CfsX5
Links:
dbSNP: rs796051964
NCBI 1000 Genomes Browser:
rs796051964
Molecular consequence:
  • NM_004453.3:c.51dupT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281737.1:c.35-1712dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238859GeneDxcriteria provided, single submitter
Pathogenic
(May 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238859.7

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

Description

The c.51dupT, the normal sequence with the base that is duplicated in braces is: TTCA{T}GCCT. The c.51dupT variant in the ETFDH gene has been reported previously in association with glutaric aciduria type II (GAII) in 2 unrelated patients with ETF:ubiquinone oxidoreductase (ETF:QO) deficiency (Goodman et al., 2002). The c.51dupT variant causes a frameshift starting with codon Alanine 18, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ala18CysfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.51dupT 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). We interpret c.51dupT as a pathogenic variant.

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

Last Updated: Mar 30, 2019

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