NM_000018.4(ACADVL):c.582A>C (p.Thr194=) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 26, 2020
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:: RCV002186156.6

Allele description [Variation Report for NM_000018.4(ACADVL):c.582A>C (p.Thr194=)]

NM_000018.4(ACADVL):c.582A>C (p.Thr194=)

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.582A>C (p.Thr194=)

HGVS:

NC_000017.11:g.7221642A>C
NG_007975.1:g.6809A>C
NG_008391.2:g.3409T>G
NM_000018.4:c.582A>CMANE SELECT
NM_001033859.3:c.516A>C
NM_001270447.2:c.651A>C
NM_001270448.2:c.354A>C
NP_000009.1:p.Thr194=
NP_001029031.1:p.Thr172=
NP_001257376.1:p.Thr217=
NP_001257377.1:p.Thr118=
NC_000017.10:g.7124961A>C

Links:

dbSNP: rs113891941

NCBI 1000 Genomes Browser:

rs113891941

Molecular consequence:

NM_000018.4:c.582A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001033859.3:c.516A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001270447.2:c.651A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001270448.2:c.354A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:: VLCAD deficiency
Identifiers:: MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

Recent activity

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RecName: Full=Small ribosomal subunit protein uS15m; AltName: Full=28S ribosomal...
RecName: Full=Small ribosomal subunit protein uS15m; AltName: Full=28S ribosomal protein S15, mitochondrial; Short=MRP-S15; Short=S15mt; Flags: Precursor
gi|82183063|sp|Q6DGL8.1|RT15_DANRE

Protein
GLT8D1 [Nomascus leucogenys]
GLT8D1 [Nomascus leucogenys]
Gene ID:100583782

Gene
Rubella Syndrome, Congenital
Rubella Syndrome, Congenital
Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abno...<br/>Year introduced: 1991(1987)

MeSH
LOC795056 [Danio rerio]
LOC795056 [Danio rerio]
Gene ID:795056

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002484054	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 26, 2020)	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

SCV002484054

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 26, 2020)

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

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, SCV002484054.3

#	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: Sep 29, 2024

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