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.96G>A (p.Arg32=)

CA497619538

1087851 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 74673955-9738-45d0-8765-46f53a3eb4c2

HGVS expressions

NM_000018.4:c.96G>A

NM_000018.4(ACADVL):c.96G>A (p.Arg32=)

NC_000017.11:g.7220155G>A

CM000679.2:g.7220155G>A

NC_000017.10:g.7123474G>A

CM000679.1:g.7123474G>A

NC_000017.9:g.7064198G>A

NG_007975.1:g.5322G>A

NG_008391.2:g.4896C>T

ENST00000356839.10:c.96G>A

ENST00000322910.9:c.*51G>A

ENST00000350303.9:c.96G>A

ENST00000356839.9:c.96G>A

ENST00000543245.6:c.165G>A

ENST00000577191.5:n.173G>A

ENST00000577857.5:n.186G>A

ENST00000578269.5:n.203G>A

ENST00000578421.1:n.230G>A

ENST00000579286.5:n.203G>A

ENST00000579886.2:c.96G>A

ENST00000580263.5:n.186G>A

ENST00000581562.5:n.143G>A

ENST00000582056.5:n.186G>A

ENST00000582356.5:n.221G>A

ENST00000583312.5:c.96G>A

ENST00000584103.5:c.96G>A

NM_000018.3:c.96G>A

NM_001033859.2:c.96G>A

NM_001270447.1:c.165G>A

NM_001270448.1:c.-133G>A

NM_001033859.3:c.96G>A

NM_001270447.2:c.165G>A

NM_001270448.2:c.-133G>A

Likely Benign

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 c.96G>A (p.Arg32=) variant is a synonymous (silent) variant that is not predicted by MaxEntScn and NNSplice to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP (BP4, BP7). This variant is absent from gnomAD v.2.1.1; however, this is not considered conflicting evidence with BP4 and BP7. 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: BP4, BP7. (ACADVL VCEP specifications version 1; approved February 28, 2023)

BP4

MaxEntScn, NNSplice, and Splice AI agree no predicted change to splicing

BP7

MaxEntScn, NNSplice, and Splice AI agree no predicted change to splicing. Not conserved nucleotide

Approved on: 2023-02-28

Published on: 2023-02-28

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