NM_001608.3(ACADL):c.113C>T (p.Thr38Ile) AND Very long chain acyl-CoA dehydrogenase deficiency

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:
RCV000315201.1

Allele description [Variation Report for NM_001608.3(ACADL):c.113C>T (p.Thr38Ile)]

NM_001608.3(ACADL):c.113C>T (p.Thr38Ile)

Gene:
ACADL:acyl-CoA dehydrogenase long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001608.3(ACADL):c.113C>T (p.Thr38Ile)
HGVS:
  • NC_000002.12:g.210220767G>A
  • NG_008002.1:g.9725C>T
  • NM_001608.3:c.113C>T
  • NP_001599.1:p.Thr38Ile
  • NC_000002.11:g.211085491G>A
Protein change:
T38I
Links:
dbSNP: rs61731470
NCBI 1000 Genomes Browser:
rs61731470
Molecular consequence:
  • NM_001608.3:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
Synonyms:
Long chain acyl-CoA dehydrogenase deficiency
Identifiers:
MedGen: C3887523; Orphanet: 26793; OMIM: 201475

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000426802Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000426802.2

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

Last Updated: Mar 30, 2019

Support Center