NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser) AND Deficiency of butyryl-CoA dehydrogenase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 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:: RCV001245509.7

Allele description [Variation Report for NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)]

NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)

Gene:

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

Variant type:

Inversion

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)

HGVS:

NC_000012.12:g.120737096_120737097inv
NG_007991.1:g.16329_16330inv
NM_000017.4:c.321_322invMANE SELECT
NM_001302554.2:c.321_322inv
NP_000008.1:p.Gly108Ser
NP_001289483.1:p.Gly108Ser
NC_000012.11:g.121174899_121174900delinsCA
NC_000012.11:g.121174899_121174900inv
NM_000017.3:c.321_322delinsCA

Protein change:

G108S

Links:

Molecular consequence:

NM_000017.4:c.321_322inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001302554.2:c.321_322inv - 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

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PSMD8BP1 (0)
OMIM
Geometridae isocitrate dehydrogenase (IDH) gene, partial cds.
Geometridae isocitrate dehydrogenase (IDH) gene, partial cds.
PopSet: 1624521494

PopSet
Mus musculus predicted gene 1965 (Gm1965), transcript variant 1, long non-coding...
Mus musculus predicted gene 1965 (Gm1965), transcript variant 1, long non-coding RNA
gi|652700236|ref|NR_121593.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001418801	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 1, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23155713, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001418801

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 1, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.

Jiang M, Liu L, Peng M, Liang C, Sheng H, Cai Y.

J Pediatr Endocrinol Metab. 2012;25(7-8):795-7.

PubMed [citation]

PMID:: 23155713

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001418801.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in an individual with clinical features of SCAD deficiency (PMID: 23155713). This sequence change replaces glycine with serine at codon 108 of the ACADS protein (p.Gly108Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

#	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: Sep 29, 2024

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