Variant
ACADVL c.1752-4_1754del
NM_000018.4(ACADVL):c.1752-4_1754del (p.?)
- p.?
- rs2071401309
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 14 December 2022
- Expert panel
- ClinGen ACADVL Variant Curation Expert Panel, ClinGen
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
c.1752-4_1754del is a splice variant in ACADVL: it sits at or near a boundary between an exon and an intron, where it may change how the gene's RNA is put together. ClinVar classifies it as pathogenic for Very Long Chain Acyl-Coa Dehydrogenase Deficiency (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Very Long Chain Acyl-Coa Dehydrogenase DeficiencyClinVar VCV000932835 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 14 December 2022 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ACADVL
c.1752-4_1754del lies in intron 18, between exons 18 and 19 of the 20 in ACADVL's MANE Select transcript, NM_000018.4.
Molecular details
| Gene | ACADVL |
|---|---|
| Transcript | NM_000018.4MANE Select |
| Coding DNA change (HGVS c.) | c.1752-4_1754del |
| Protein change (HGVS p.) | p.? |
| Predicted consequence | Splice site or regionsplice_acceptor_variant (opens in a new tab)splice_region_variant (opens in a new tab)exonic_splice_region_variant (opens in a new tab)splice_polypyrimidine_tract_variant (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr17:7224804 GCCAGGGC>G |
| Position (GRCh37) | chr17:7128123 GCCAGGGC>G |
| dbSNP ID | rs2071401309 (opens in a new tab) |
| ClinVar Variation ID | VCV000932835 (opens in a new tab) |
| ClinVar Allele ID | 921193 |
| ClinGen Allele Registry ID | CA1139665161 (opens in a new tab) |
| ClinVar name | NM_000018.4(ACADVL):c.1752-3_1755del |
ACADVL c.1752-4_1754del in other databases
Reports that look at this variant (3)
These Genome Test condition reports include c.1752-4_1754del among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Fatty Acid Oxidation & Carnitine Cycle Disorders | Disorders of Fatty Acid Oxidation and Ketogenesis | Autosomal recessive |
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Autosomal recessive |
Other variants in ACADVL
- A141Gfs*9Likely pathogenic3 stars out of 4
- A180TLikely pathogenic3 stars out of 4
- A213PLikely pathogenic3 stars out of 4
- A213TLikely pathogenic3 stars out of 4
- A333Cfs*26Likely pathogenic3 stars out of 4
- A333Vfs*26Pathogenic3 stars out of 4
- A347Pfs*6Likely pathogenic3 stars out of 4
- A416TLikely pathogenic3 stars out of 4
- A490PLikely pathogenic3 stars out of 4
- A544Pfs*3Likely pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). ACADVL c.1752-4_1754del (rs2071401309) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/acadvl/variants/c-1752-4to1754del
Dante Labs. ACADVL c.1752-4_1754del (rs2071401309) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acadvl/variants/c-1752-4to1754del
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