Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_000018.4(ACADVL):c.478-106del

CA287436033

676456 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ac106284-88c5-4f37-9726-d83f9093fc48

HGVS expressions

NM_000018.4:c.478-106del

NM_000018.4(ACADVL):c.478-106del

NC_000017.11:g.7221432del

CM000679.2:g.7221432del

NC_000017.10:g.7124751del

CM000679.1:g.7124751del

NC_000017.9:g.7065475del

NG_007975.1:g.6599del

NG_008391.2:g.3619del

ENST00000356839.10:c.478-106del

ENST00000322910.9:c.*433-106del

ENST00000350303.9:c.412-106del

ENST00000356839.9:c.478-106del

ENST00000543245.6:c.547-106del

ENST00000577191.5:n.555-106del

ENST00000577433.5:n.686-106del

ENST00000577857.5:n.294-106del

ENST00000579286.5:n.659-106del

ENST00000579886.2:c.316-106del

ENST00000580365.1:n.209-106del

ENST00000581378.5:n.177-87del

ENST00000581562.5:n.524+374del

ENST00000582166.1:n.459-106del

ENST00000583312.5:c.478-106del

ENST00000583760.1:n.154del

NM_000018.3:c.478-106del

NM_001033859.2:c.412-106del

NM_001270447.1:c.547-106del

NM_001270448.1:c.250-106del

NM_001033859.3:c.412-106del

NM_001270447.2:c.547-106del

NM_001270448.2:c.250-106del

Benign

BA1

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.478-106del variant in ACADVL is an intronic variant. The highest population minor allele frequency in gnomAD v2.1.1 is 0.62 in the European Finnish population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BA1

BA1

52% in genomes in gnomAD

Approved on: 2021-11-19

Published on: 2022-04-06

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