NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 24, 2015
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:: RCV000489160.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)]

NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)

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.1013A>G (p.Asn338Ser)

HGVS:

NC_000017.11:g.7222801A>G
NG_007975.1:g.7968A>G
NG_008391.2:g.2250T>C
NM_000018.4:c.1013A>GMANE SELECT
NM_001033859.3:c.947A>G
NM_001270447.2:c.1082A>G
NM_001270448.2:c.785A>G
NP_000009.1:p.Asn338Ser
NP_001029031.1:p.Asn316Ser
NP_001257376.1:p.Asn361Ser
NP_001257377.1:p.Asn262Ser
NC_000017.10:g.7126120A>G
NM_000018.2:c.1013A>G
NM_000018.3:c.1013A>G

Protein change:

N262S

Links:

dbSNP: rs956279629

NCBI 1000 Genomes Browser:

rs956279629

Molecular consequence:

NM_000018.4:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1082A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.785A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000577857	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Mar 24, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000577857

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Mar 24, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000577857.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The N338S variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The N338S substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (L337F, F342L) have been reported in the Human Gene Mutation Database in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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