NC_000017.10:g.(?_6589506)_(7128436_?)del AND Very long chain acyl-CoA dehydrogenase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 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:: RCV001391032.1

Allele description

NC_000017.10:g.(?_6589506)_(7128436_?)del

Genes:

BCL6B:BCL6B transcription repressor [Gene - OMIM - HGNC]
CLEC10A:C-type lectin domain containing 10A [Gene - OMIM - HGNC]
FBXO39:F-box protein 39 [Gene - OMIM - HGNC]
XAF1:XIAP associated factor 1 [Gene - OMIM - HGNC]
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
ALOX12:arachidonate 12-lipoxygenase, 12S type [Gene - OMIM - HGNC]
ASGR1:asialoglycoprotein receptor 1 [Gene - OMIM - HGNC]
ASGR2:asialoglycoprotein receptor 2 [Gene - OMIM - HGNC]
C17orf49:chromosome 17 open reading frame 49 [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
MIR195:microRNA 195 [Gene - OMIM - HGNC]
MIR497HG:mir-497-195 cluster host gene [Gene - HGNC]
RNASEK:ribonuclease K [Gene - OMIM - HGNC]
SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]
SLC16A13:solute carrier family 16 member 13 [Gene - HGNC]
TEKT1:tektin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Chr17: 6589506 - 7128436 (on Assembly GRCh37)

Preferred name:

NC_000017.10:g.(?_6589506)_(7128436_?)del

HGVS:

NC_000017.10:g.(?_6589506)_(7128436_?)del

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
SCV001592949	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 16, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9973285, 11590124, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001592949

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 16, 2020)

germline

clinical testing

PubMed (3)
[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

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N.

Am J Hum Genet. 1999 Feb;64(2):479-94.

PubMed [citation]

PMID:: 9973285
PMCID:: PMC1377757

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA.

Hum Mol Genet. 2001 Sep 15;10(19):2069-77.

PubMed [citation]

PMID:: 11590124

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592949.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the ACADVL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with ACADVL-related conditions. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.

#	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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