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.1182+17C>A

CA8337984

380058 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 112853dc-11af-43d0-b6da-edfd629f384f

HGVS expressions

NM_000018.4:c.1182+17C>A

NM_000018.4(ACADVL):c.1182+17C>A

NC_000017.11:g.7223254C>A

CM000679.2:g.7223254C>A

NC_000017.10:g.7126573C>A

CM000679.1:g.7126573C>A

NC_000017.9:g.7067297C>A

NG_007975.1:g.8421C>A

NG_008391.2:g.1797G>T

ENST00000356839.10:c.1182+17C>A

ENST00000322910.9:c.*1137+17C>A

ENST00000350303.9:c.1116+17C>A

ENST00000356839.9:c.1182+17C>A

ENST00000542255.6:n.40+17C>A

ENST00000543245.6:c.1251+17C>A

ENST00000578579.2:n.131+17C>A

ENST00000578824.5:n.598+17C>A

ENST00000579425.5:n.206+17C>A

ENST00000579546.1:n.19+17C>A

ENST00000583858.5:n.211+17C>A

ENST00000585203.6:n.390+17C>A

NM_000018.3:c.1182+17C>A

NM_001033859.2:c.1116+17C>A

NM_001270447.1:c.1251+17C>A

NM_001270448.1:c.954+17C>A

NM_001033859.3:c.1116+17C>A

NM_001270447.2:c.1251+17C>A

NM_001270448.2:c.954+17C>A

Uncertain Significance

BP4 PM2_Supporting

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.1182+17C>A variant in ACADVL is an intronic variant which is located in intron 11. The highest population minor allele frequency in gnomAD v2.1.1 is 0.0001 in African American population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (< 0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The results from two in silico splicing predictors (SpliceSiteFinder-like and NNSPLICE) support that this variant does not affect splicing (BP4). Due to conflicting evidence, this variant is classified as a variant of unknown significance for autosomal recessive very long chain acyl CoA dehydrogenase (VLCAD) deficiency based on ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PM2_Supporting, BP4.

BP4

The results from two in silico splicing predictors (SpliceSiteFinder-like and NNSPLICE) support that this variant does not affect splicing (BP4)

PM2_Supporting

The highest population minor allele frequency in gnomAD v2.1.1 is 0.0001 in African American population, which is lower than the ClinGen ACADVL VCEP threshold (< 0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting).

Approved on: 2022-12-15

Published on: 2022-12-15

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