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NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2022
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:
RCV002388712.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)]

NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)

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.1399A>G (p.Ile467Val)
HGVS:
  • NC_000017.11:g.7224034A>G
  • NG_007975.1:g.9201A>G
  • NG_008391.2:g.1017T>C
  • NG_033038.1:g.15511T>C
  • NM_000018.4:c.1399A>GMANE SELECT
  • NM_001033859.3:c.1333A>G
  • NM_001270447.2:c.1468A>G
  • NM_001270448.2:c.1171A>G
  • NP_000009.1:p.Ile467Val
  • NP_001029031.1:p.Ile445Val
  • NP_001257376.1:p.Ile490Val
  • NP_001257377.1:p.Ile391Val
  • NC_000017.10:g.7127353A>G
  • NM_000018.2:c.1399A>G
Protein change:
I391V
Links:
dbSNP: rs755685700
NCBI 1000 Genomes Browser:
rs755685700
Molecular consequence:
  • NM_000018.4:c.1399A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.1171A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002700727Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 17, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002700727.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.I467V variant (also known as c.1399A>G), located in coding exon 14 of the ACADVL gene, results from an A to G substitution at nucleotide position 1399. The isoleucine at codon 467 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024