NM_000018.4(ACADVL):c.1678+23C>T AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Oct 13, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000652047.17

Allele description [Variation Report for NM_000018.4(ACADVL):c.1678+23C>T]

NM_000018.4(ACADVL):c.1678+23C>T

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.1678+23C>T

HGVS:

NC_000017.11:g.7224575C>T
NG_007975.1:g.9742C>T
NG_008391.2:g.476G>A
NG_033038.1:g.14970G>A
NM_000018.4:c.1678+23C>TMANE SELECT
NM_001033859.3:c.1612+23C>T
NM_001270447.2:c.1747+23C>T
NM_001270448.2:c.1450+23C>T
NC_000017.10:g.7127894C>T
NM_000018.3:c.1678+23C>T

Links:

dbSNP: rs147546456

NCBI 1000 Genomes Browser:

rs147546456

Molecular consequence:

NM_000018.4:c.1678+23C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001033859.3:c.1612+23C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001270447.2:c.1747+23C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001270448.2:c.1450+23C>T - intron variant - [Sequence Ontology: SO:0001627]

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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Nemania serpens strain AK0226 unplaced genomic scaffold F5B17scaffold_18, whole ...
Nemania serpens strain AK0226 unplaced genomic scaffold F5B17scaffold_18, whole genome shotgun sequence
gi|2211047808|gb|MU390850.1||gnl|WG KKM01|F5B17scaffold_18

Nucleotide
JGI_CAAK12437.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7663215 3...
JGI_CAAK12437.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7663215 3', mRNA sequence
gi|58500865|gnl|dbEST|27545205|gb|C 85.1|

Nucleotide
LOC107985732 [Homo sapiens]
LOC107985732 [Homo sapiens]
Gene ID:107985732

Gene
TMEM274P transmembrane protein 274, pseudogene [Homo sapiens]
TMEM274P transmembrane protein 274, pseudogene [Homo sapiens]
Gene ID:113391335

Gene
LOC101927401 [Homo sapiens]
LOC101927401 [Homo sapiens]
Gene ID:101927401

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000773913	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Oct 13, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000799649	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Apr 27, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001365167	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 1, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001455190	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 9, 2020)	germline	clinical testing
SCV001526917	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 5, 2018)	maternal	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
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	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

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Evans M, Andresen BS, Nation J, Boneh A.

Mol Genet Metab. 2016 Aug;118(4):282-7. doi: 10.1016/j.ymgme.2016.05.012. Epub 2016 May 16.

PubMed [citation]

PMID:: 27246109

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000773913.8

#	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

From Counsyl, SCV000799649.1

#	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

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV001365167.2

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

Description

The NM_000018.3:c.1678+23C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224575C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.

#	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

From Natera, Inc., SCV001455190.1

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

From Baylor Genetics, SCV001526917.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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