Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene label mismatch: ACADVL vs undefined
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)

CA341515

21014 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: e8ed2a1e-d249-4412-b1d5-8f9a5eade1b4
Approved on: 2025-04-22
Published on: 2025-04-22

HGVS expressions

NM_000018.4:c.1284G>A
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
NC_000017.11:g.7223827G>A
CM000679.2:g.7223827G>A
NC_000017.10:g.7127146G>A
CM000679.1:g.7127146G>A
NC_000017.9:g.7067870G>A
NG_007975.1:g.8994G>A
NG_008391.2:g.1224C>T
NG_033038.1:g.15718C>T
ENST00000356839.10:c.1284G>A
ENST00000322910.9:c.*1239G>A
ENST00000350303.9:c.1218G>A
ENST00000356839.9:c.1284G>A
ENST00000542255.6:c.142G>A
ENST00000543245.6:c.1353G>A
ENST00000578579.2:n.455G>A
ENST00000578711.1:n.323G>A
ENST00000578824.5:n.700G>A
ENST00000579425.5:n.308G>A
ENST00000579546.1:c.121G>A
ENST00000583074.5:n.3G>A
ENST00000583850.5:n.59G>A
ENST00000583858.5:c.313G>A
ENST00000585203.6:n.492G>A
NM_000018.3:c.1284G>A
NM_001033859.2:c.1218G>A
NM_001270447.1:c.1353G>A
NM_001270448.1:c.1056G>A
NM_001033859.3:c.1218G>A
NM_001270447.2:c.1353G>A
NM_001270448.2:c.1056G>A
More

Likely Benign

Met criteria codes 2
BP7 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.1284G>A (p.Lys428=) variant (NM_000018.3) is a synonymous (silent) variant that is not predicted by NNSplice, MaxEntScan, and SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP (BP4, BP7). The highest population minor allele frequency in gnomAD v4.1 is 0.001 in Non-Finnish European population (PM2_Supporting, BS1, and BA1 are not met). 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 November 9, 2021).
Met criteria codes
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No predicted change to splicing NNSplice, MaxEntScan, and SpliceAI.
Curation History
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