NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr) AND Glutaric aciduria, type 2

Clinical significance:Uncertain significance (Last evaluated: Jan 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000660476.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)]

NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)

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.1375C>T (p.His459Tyr)
Other names:
p.H459Y:CAC>TAC
HGVS:
  • NC_000004.12:g.158706278C>T
  • NG_007078.2:g.38937C>T
  • NM_004453.3:c.1375C>T
  • NP_004444.2:p.His459Tyr
  • NC_000004.11:g.159627430C>T
  • NM_004453.2:c.1375C>T
Protein change:
H459Y
Links:
dbSNP: rs200111698
NCBI 1000 Genomes Browser:
rs200111698
Molecular consequence:
  • NM_004453.3:c.1375C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000782573Mayo Clinic Genetic Testing Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Jan 20, 2017)
maternalclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000782573.1

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

Last Updated: Apr 17, 2019

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