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.663C>T (p.Ser221=)

CA8337806

383052 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 8dc05298-3c59-48f9-8cad-699747cf0849

HGVS expressions

NM_000018.4:c.663C>T

NM_000018.4(ACADVL):c.663C>T (p.Ser221=)

NC_000017.11:g.7221992C>T

CM000679.2:g.7221992C>T

NC_000017.10:g.7125311C>T

CM000679.1:g.7125311C>T

NC_000017.9:g.7066035C>T

NG_007975.1:g.7159C>T

NG_008391.2:g.3059G>A

ENST00000356839.10:c.663C>T

ENST00000322910.9:c.*618C>T

ENST00000350303.9:c.597C>T

ENST00000356839.9:c.663C>T

ENST00000543245.6:c.732C>T

ENST00000577191.5:n.740C>T

ENST00000577857.5:n.479C>T

ENST00000579286.5:n.844C>T

ENST00000580365.1:n.394C>T

ENST00000581378.5:n.381C>T

ENST00000581562.5:n.565C>T

ENST00000582379.1:n.47C>T

ENST00000583760.1:n.445C>T

NM_000018.3:c.663C>T

NM_001033859.2:c.597C>T

NM_001270447.1:c.732C>T

NM_001270448.1:c.435C>T

NM_001033859.3:c.597C>T

NM_001270447.2:c.732C>T

NM_001270448.2:c.435C>T

Likely Benign

BS1 BP4 BP7

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The NM_000018.4(ACADVL):c.663C>T (p.Ser221=) variant is a synonymous (silent) variant that is not predicted by SpliceAI, MaxEntScn and NNSplice to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP (BP4, BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00353 in African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.0035) for BS1, and therefore meets this criterion (BS1). In summary, this variant meets the criteria to be classified as likely 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: BS1, BP4, BP7.

BS1

The highest population minor allele frequency in gnomAD v2.1.1 is 0.00353 in African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.0035) for BS1, and therefore meets this criterion (BS1).

BP4

BP7

Approved on: 2022-12-15

Published on: 2022-12-15

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