NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000175781.3

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]
Observations:
3

Condition(s)

Name:
Glutaric aciduria, type 2 (MADD)
Synonyms:
GA II; GLUTARIC ACIDURIA II; Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identifiers:
MedGen: C0268596; Orphanet: 26791; OMIM: 231680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000227338EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Sep 29, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000631946Invitaecriteria provided, single submitter
Pathogenic
(Sep 1, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA.

Brain. 2007 Aug;130(Pt 8):2045-54. Epub 2007 Jun 20.

PubMed [citation]
PMID:
17584774

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

Goodman SI, Binard RJ, Woontner MR, Frerman FE.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90.

PubMed [citation]
PMID:
12359134
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000227338.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Invitae, SCV000631946.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Ala18Cysfs*5) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773961946, ExAC 0.02%). This variant has been reported in the literature in combination with other ETFDH variants in patients affected with ETFDH-related diseases (PMID: 12359134, 17584774, 12815589). Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 30, 2019

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