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.63-35G>A

CA8337533

811499 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7ad2bed7-fe12-4d4a-89f6-90c4d5a08e6f

HGVS expressions

NM_000018.4:c.63-35G>A

NM_000018.4(ACADVL):c.63-35G>A

NC_000017.11:g.7220087G>A

CM000679.2:g.7220087G>A

NC_000017.10:g.7123406G>A

CM000679.1:g.7123406G>A

NC_000017.9:g.7064130G>A

NG_007975.1:g.5254G>A

NG_008391.2:g.4964C>T

ENST00000356839.10:c.63-35G>A

ENST00000322910.9:c.103G>A

ENST00000350303.9:c.63-35G>A

ENST00000356839.9:c.63-35G>A

ENST00000543245.6:c.132-35G>A

ENST00000577191.5:n.140-35G>A

ENST00000577857.5:n.153-35G>A

ENST00000578269.5:n.170-35G>A

ENST00000578421.1:n.162G>A

ENST00000579286.5:n.170-35G>A

ENST00000579886.2:c.63-35G>A

ENST00000580263.5:n.153-35G>A

ENST00000581562.5:n.110-35G>A

ENST00000582056.5:n.153-35G>A

ENST00000582356.5:n.188-35G>A

ENST00000583312.5:c.63-35G>A

ENST00000584103.5:c.63-35G>A

NM_000018.3:c.63-35G>A

NM_001033859.2:c.63-35G>A

NM_001270447.1:c.132-35G>A

NM_001270448.1:c.-201G>A

NM_001033859.3:c.63-35G>A

NM_001270447.2:c.132-35G>A

NM_001270448.2:c.-201G>A

Benign

BP4 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.63-35G>A variant in ACADVL is an intronic variant which occurs in intron 1. The highest population minor allele frequency in gnomAD v2.1.1 is 0.02152 in the Latino/Admixed American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). The results from 2 in silico splicing predictors (SpliceAI, NNSplice) support that this variant does not affect splicing (BP4). 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, BP4 (VCEP specifications v2.0, approved on 09/16/2021).

BP4

SpliceAI predicts a donor/acceptor loss delta score of 0.17 and 0.18 respectively, less than 0.2. NNSplice predicts no change in acceptor site.

BA1

MAF of 0.02152 with 13 homozygotes in the Latino population

Approved on: 2022-03-08

Published on: 2022-03-08

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