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NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001250508.9

Allele description [Variation Report for NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)]

NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)

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.739A>C (p.Lys247Gln)
HGVS:
  • NC_000017.11:g.7222068A>C
  • NG_007975.1:g.7235A>C
  • NG_008391.2:g.2983T>G
  • NM_000018.4:c.739A>CMANE SELECT
  • NM_001033859.3:c.673A>C
  • NM_001270447.2:c.808A>C
  • NM_001270448.2:c.511A>C
  • NP_000009.1:p.Lys247Gln
  • NP_001029031.1:p.Lys225Gln
  • NP_001257376.1:p.Lys270Gln
  • NP_001257377.1:p.Lys171Gln
  • NC_000017.10:g.7125387A>C
  • NM_000018.3:c.739A>C
Protein change:
K171Q; LYS247GLN
Links:
OMIM: 609575.0011; dbSNP: rs387906253
NCBI 1000 Genomes Browser:
rs387906253
Molecular consequence:
  • NM_000018.4:c.739A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.511A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167357NxGen MDx
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 4, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 NxGen MDx, SCV001167357.1

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

Description

This is a nonconservative change that is predicted to be damaging (PP3) and has been reported in the literature only as part of a pathogenic compound allele (with c.194C>T). This variant is not present in GnomAD Exomes (PM2). Other changes at this position, p.Lys247Glu and p.Lys247Thr, have been classifed by Uniprot as disease-associated; however, p.Lys247Glu is reported as a VUS in ClinVar.

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

Last Updated: Nov 3, 2024