NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) AND Deficiency of butyryl-CoA dehydrogenase

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 4, 2024
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:: RCV000675052.6

Allele description [Variation Report for NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)]

NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)

Gene:

ACADS:acyl-CoA dehydrogenase short chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)

Other names:

p.G371V:GGC>GTC

HGVS:

NC_000012.12:g.120739321G>T
NG_007991.1:g.18554G>T
NM_000017.4:c.1112G>TMANE SELECT
NM_001302554.2:c.1100G>T
NP_000008.1:p.Gly371Val
NP_001289483.1:p.Gly367Val
NC_000012.11:g.121177124G>T
NM_000017.2:c.1112G>T

Protein change:

G367V

Links:

dbSNP: rs796051905

NCBI 1000 Genomes Browser:

rs796051905

Molecular consequence:

NM_000017.4:c.1112G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001302554.2:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deficiency of butyryl-CoA dehydrogenase (ACADSD)
Synonyms:: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; SCAD DEFICIENCY, MILD
Identifiers:: MONDO: MONDO:0008722; MedGen: C0342783; Orphanet: 26792; OMIM: 201470

Recent activity

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Minor tail protein G [Escherichia coli S88]
Minor tail protein G [Escherichia coli S88]
gi|218364837|emb|CAR02529.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800497	Counsyl	no assertion criteria provided	Uncertain significance (Feb 9, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004809585	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 4, 2024)	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

SCV000800497

Counsyl

no assertion criteria provided

Uncertain significance
(Feb 9, 2017)

unknown

clinical testing

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

SCV004809585

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 4, 2024)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.

Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4.

PubMed [citation]

PMID:: 18523805

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, SCV000800497.2

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

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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004809585.1

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

#	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: Aug 4, 2024

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