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:

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

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

ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)
  • 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
dbSNP: rs796051964
NCBI 1000 Genomes Browser:
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]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000238859GeneDxcriteria provided, single submitter
(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


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.

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

Last Updated: Mar 30, 2019

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