NM_004453.3(ETFDH):c.1141G>C (p.Gly381Arg) AND Glutaric aciduria, type 2

Clinical significance:Likely pathogenic (Last evaluated: Sep 21, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000625637.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.1141G>C (p.Gly381Arg)]

NM_004453.3(ETFDH):c.1141G>C (p.Gly381Arg)

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.1141G>C (p.Gly381Arg)
HGVS:
  • NC_000004.12:g.158703447G>C
  • NG_007078.2:g.36106G>C
  • NM_004453.3:c.1141G>C
  • NP_004444.2:p.Gly381Arg
  • NC_000004.11:g.159624599G>C
Protein change:
G381R
Links:
dbSNP: rs1466787789
NCBI 1000 Genomes Browser:
rs1466787789
Molecular consequence:
  • NM_004453.3:c.1141G>C - 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
SCV000746138Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedLikely pathogenic
(Sep 21, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000746138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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