NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) AND Glutaric aciduria, type 2

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000377415.1

Allele description [Variation Report for NM_000126.3(ETFA):c.512C>T (p.Thr171Ile)]

NM_000126.3(ETFA):c.512C>T (p.Thr171Ile)

Gene:
ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.2
Genomic location:
Preferred name:
NM_000126.3(ETFA):c.512C>T (p.Thr171Ile)
Other names:
p.T171I:ACA>ATA
HGVS:
  • NC_000015.10:g.76286421G>A
  • NG_007077.2:g.30049C>T
  • NM_000126.3:c.512C>T
  • NP_000117.1:p.Thr171Ile
  • NC_000015.9:g.76578762G>A
  • P13804:p.Thr171Ile
Protein change:
T171I
Links:
UniProtKB: P13804#VAR_008547; dbSNP: rs1801591
NCBI 1000 Genomes Browser:
rs1801591
Molecular consequence:
  • NM_000126.3:c.512C>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
SCV000393971Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N.

Mol Genet Metab. 1999 Jun;67(2):138-47.

PubMed [citation]
PMID:
10356313

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000393971.2

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

Last Updated: Mar 30, 2019

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