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.1605+6T>C

CA274404

92277 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance (with genetic anticipation)

Link to MONDO

UUID: e36b43d6-08b9-4584-81d5-3cf5dd06654c

HGVS expressions

NM_000018.4:c.1605+6T>C

NM_000018.4(ACADVL):c.1605+6T>C

NC_000017.11:g.7224399T>C

CM000679.2:g.7224399T>C

NC_000017.10:g.7127718T>C

CM000679.1:g.7127718T>C

NC_000017.9:g.7068442T>C

NG_007975.1:g.9566T>C

NG_008391.2:g.652A>G

NG_033038.1:g.15146A>G

ENST00000356839.10:c.1605+6T>C

ENST00000322910.9:c.*1560+6T>C

ENST00000350303.9:c.1539+6T>C

ENST00000356839.9:c.1605+6T>C

ENST00000542255.6:n.463+6T>C

ENST00000543245.6:c.1674+6T>C

ENST00000578319.5:n.106T>C

ENST00000578711.1:n.895T>C

ENST00000578809.5:n.177+6T>C

ENST00000579391.1:n.213+6T>C

ENST00000579425.5:n.721+6T>C

ENST00000579546.1:n.344+6T>C

ENST00000579894.5:n.392+6T>C

ENST00000582450.1:n.113+6T>C

ENST00000583074.5:n.226+6T>C

ENST00000583850.5:n.380+6T>C

ENST00000583858.5:n.536+6T>C

ENST00000585203.6:n.796+6T>C

NM_000018.3:c.1605+6T>C

NM_001033859.2:c.1539+6T>C

NM_001270447.1:c.1674+6T>C

NM_001270448.1:c.1377+6T>C

NM_001033859.3:c.1539+6T>C

NM_001270447.2:c.1674+6T>C

NM_001270448.2:c.1377+6T>C

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.1605+6T>C variant in ACADVL is an intronic variant which occurs in intron 16. The highest population minor allele frequency in gnomAD v2.1.1 is 0.66 in 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). The results from in silico splicing predictors (SpliceAI) 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 ExpertPanel: BA1, BP4.

BA1

gnomAD overall = 0.6 (60%) meets minor allele frequency (MAF) ≥0.007 (0.7%)

BP4

Less than 10% reduction in splicing of nearby donor site. Used average of MaxEnt, NNSplice, SSF of Alamut Visual Plus. Splice AI = 4%

Approved on: 2023-06-27

Published on: 2023-06-27

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