NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000668330.10

Allele description [Variation Report for NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG]

NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG

Genes:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG

HGVS:

NC_000017.11:g.7219913_7219914insGAGGACGTGGGCGTG
NG_007975.1:g.5080_5081insGAGGACGTGGGCGTG
NG_008391.2:g.5137_5138insCACGCCCACGTCCTC
NG_008391.3:g.5136_5137insCACGCCCACGTCCTC
NM_000018.4:c.-72_-71insGAGGACGTGGGCGTGMANE SELECT
NM_001033859.2:c.-72_-71insGAGGACGTGGGCGTG
NM_001270447.2:c.132-209_132-208insGAGGACGTGGGCGTG
NM_001270448.1:c.-375_-374insGAGGACGTGGGCGTG
NM_001321074.1:c.-1065_-1064insCACGCCCACGTCCTC
NM_001365.4:c.-1065_-1064insCACGCCCACGTCCTC
NC_000017.10:g.7123232_7123233insGAGGACGTGGGCGTG
NM_000018.3:c.-72_-71ins15
NM_000018.3:c.-72_-71insGAGGACGTGGGCGTG
NR_135527.1:n.137_138insCACGCCCACGTCCTC
NM_000018.3:c.-72_-71ins15

Links:

dbSNP: rs1555527381

NCBI 1000 Genomes Browser:

rs1555527381

Molecular consequence:

NM_001321074.1:c.-1065_-1064insCACGCCCACGTCCTC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000018.4:c.-72_-71insGAGGACGTGGGCGTG - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
NM_001270447.2:c.132-209_132-208insGAGGACGTGGGCGTG - intron variant - [Sequence Ontology: SO:0001627]
NR_135527.1:n.137_138insCACGCCCACGTCCTC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000792909	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 3, 2017)	unknown	clinical testing	Citation Link,
SCV002779920	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 1, 2021)	unknown	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

SCV000792909

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Aug 3, 2017)

unknown

clinical testing

Citation Link,

SCV002779920

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 1, 2021)

unknown

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

Citations

PubMed

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, SCV000792909.1

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

#	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 Fulgent Genetics, Fulgent Genetics, SCV002779920.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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