NM_004453.3(ETFDH):c.121C>T (p.Arg41Ter) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Aug 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000699705.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.121C>T (p.Arg41Ter)]

NM_004453.3(ETFDH):c.121C>T (p.Arg41Ter)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.121C>T (p.Arg41Ter)
HGVS:
  • NC_000004.12:g.158680553C>T
  • NG_007078.2:g.13212C>T
  • NM_001281737.1:c.35-1642C>T
  • NM_004453.3:c.121C>T
  • NP_004444.2:p.Arg41Ter
  • NC_000004.11:g.159601705C>T
Protein change:
R41*
Molecular consequence:
  • NM_001281737.1:c.35-1642C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004453.3:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000828428Invitaecriteria provided, single submitter
Pathogenic
(Aug 26, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

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

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB.

JIMD Rep. 2014;13:1-14. doi: 10.1007/8904_2013_262. Epub 2013 Nov 5.

PubMed [citation]
PMID:
24190796
PMCID:
PMC4110341
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000828428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg41*) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773668457, ExAC 0.001%). This variant has been reported to be compound heterozygous with pathogenic variants in two individuals with glutaric acidemia type II (PMID: 12359134, 24190796). 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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