NC_000019.9:g.(?_51727962)_(51890697_?)del AND Multiple acyl-CoA dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 2022
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:: RCV003107570.5

Allele description [Variation Report for NC_000019.9:g.(?_51727962)_(51890697_?)del]

NC_000019.9:g.(?_51727962)_(51890697_?)del

Genes:

CD33:CD33 molecule [Gene - OMIM - HGNC]
IGLON5:IgLON family member 5 [Gene - OMIM - HGNC]
SIGLECL1:SIGLEC family like 1 [Gene - HGNC]
VSIG10L:V-set and immunoglobulin domain containing 10 like [Gene - OMIM - HGNC]
CLDND2:claudin domain containing 2 [Gene - HGNC]
ETFB:electron transfer flavoprotein subunit beta [Gene - OMIM - HGNC]
LIM2:lens intrinsic membrane protein 2 [Gene - OMIM - HGNC]
NKG7:natural killer cell granule protein 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.41

Genomic location:

Chr19: 51727962 - 51890697 (on Assembly GRCh37)

Preferred name:

NC_000019.9:g.(?_51727962)_(51890697_?)del

HGVS:

NC_000019.9:g.(?_51727962)_(51890697_?)del

Condition(s)

Name:: Multiple acyl-CoA dehydrogenase deficiency (MADD)
Synonyms:: GA II; Ethylmalonic-adipicaciduria; Glutaric aciduria, type 2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009282; MedGen: C0268596; Orphanet: 26791; OMIM: 231680

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003794558	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 4, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16510302, 23785301, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003794558

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 4, 2022)

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

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.

Mol Genet Metab. 2006 Jun;88(2):153-8. Epub 2006 Feb 28.

PubMed [citation]

PMID:: 16510302

Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.

Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, Ess KC.

PLoS Genet. 2013 Jun;9(6):e1003563. doi: 10.1371/journal.pgen.1003563. Epub 2013 Jun 13.

PubMed [citation]

PMID:: 23785301
PMCID:: PMC3681725

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003794558.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ETFB-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the ETFB gene has been identified. Loss-of-function variants in ETFB are known to be pathogenic (PMID: 16510302, 23785301). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

#	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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