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]

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Variant: NM_000018.4(ACADVL):c.879-50G>T

CA8337891

932840 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 8a6d906f-85c4-48c8-97b6-a35116820339

HGVS expressions

NM_000018.4:c.879-50G>T

NM_000018.4(ACADVL):c.879-50G>T

NC_000017.11:g.7222617G>T

CM000679.2:g.7222617G>T

NC_000017.10:g.7125936G>T

CM000679.1:g.7125936G>T

NC_000017.9:g.7066660G>T

NG_007975.1:g.7784G>T

NG_008391.2:g.2434C>A

ENST00000356839.10:c.879-50G>T

ENST00000322910.9:c.*834-50G>T

ENST00000350303.9:c.813-50G>T

ENST00000356839.9:c.879-50G>T

ENST00000543245.6:c.948-50G>T

ENST00000581378.5:n.597-50G>T

ENST00000582379.1:n.263-50G>T

NM_000018.3:c.879-50G>T

NM_001033859.2:c.813-50G>T

NM_001270447.1:c.948-50G>T

NM_001270448.1:c.651-50G>T

NM_001033859.3:c.813-50G>T

NM_001270447.2:c.948-50G>T

NM_001270448.2:c.651-50G>T

Benign

BA1

BP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.879-50G>T variant in ACADVL is an intronic variant in intron 9. The highest population minor allele frequency in gnomAD v2.1.1 is 0.06975 (6.975%) in the African/African American 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 VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BA1 (ACADVL VCEP specifications version 1; approved November 8, 2021).

BA1

The highest population minor allele frequency in gnomAD v2.1.1 is 0.06975 (6.975%) in the African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1).

BP4

Splice AI delta score of 0.22, thus not meeting BP4.

Approved on: 2023-04-25

Published on: 2023-04-25

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