NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000670134.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)]

NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
HGVS:
  • NC_000017.11:g.7221663C>G
  • NG_007975.1:g.6830C>G
  • NG_008391.2:g.3388G>C
  • NM_000018.4:c.603C>GMANE SELECT
  • NM_001033859.2:c.537C>G
  • NM_001270447.1:c.672C>G
  • NM_001270448.1:c.375C>G
  • NP_000009.1:p.Tyr201Ter
  • NP_001029031.1:p.Tyr179Ter
  • NP_001257376.1:p.Tyr224Ter
  • NP_001257377.1:p.Tyr125Ter
  • NC_000017.10:g.7124982C>G
  • NM_000018.3:c.603C>G
Protein change:
Y125*
Links:
dbSNP: rs371407903
NCBI 1000 Genomes Browser:
rs371407903
Molecular consequence:
  • NM_000018.4:c.603C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001033859.2:c.537C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001270447.1:c.672C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001270448.1:c.375C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794951Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 23, 2017)
unknownclinical testing

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

Citation Link,

SCV001364961Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Pathogenic
(Nov 1, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project., Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25087612
PMCID:
PMC4129409

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 Counsyl, SCV000794951.1

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

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV001364961.2

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

Description

The NM_000018.3:c.603C>G (NP_000009.1:p.Tyr201Ter) [GRCH38: NC_000017.11:g.7221663C>G] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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