NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 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:: RCV001200703.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)]

NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)

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.1254C>G (p.Ser418Arg)

HGVS:

NC_000017.11:g.7223715C>G
NG_007975.1:g.8882C>G
NG_008391.2:g.1336G>C
NG_033038.1:g.15830G>C
NM_000018.4:c.1254C>GMANE SELECT
NM_001033859.3:c.1188C>G
NM_001270447.2:c.1323C>G
NM_001270448.2:c.1026C>G
NP_000009.1:p.Ser418Arg
NP_001029031.1:p.Ser396Arg
NP_001257376.1:p.Ser441Arg
NP_001257377.1:p.Ser342Arg
NC_000017.10:g.7127034C>G
NM_000018.3:c.1254C>G

Protein change:

S342R

Links:

dbSNP: rs2071340371

NCBI 1000 Genomes Browser:

rs2071340371

Molecular consequence:

NM_000018.4:c.1254C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.1188C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1323C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.1026C>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001365093	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 1, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001365093

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 1, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV001365093.2

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

Description

The NM_000018.3:c.1254C>G (NP_000009.1:p.Ser418Arg) [GRCH38: NC_000017.11:g.7223715C>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4

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

Last Updated: Apr 23, 2022

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