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]
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  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
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  • No CSPEC computer assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_000018.4(ACADVL):c.963C>T (p.Asn321=)

CA8337916

703477 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: f880301f-8dd3-4f76-951f-65373db1264f

HGVS expressions

NM_000018.4:c.963C>T
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
NC_000017.11:g.7222751C>T
CM000679.2:g.7222751C>T
NC_000017.10:g.7126070C>T
CM000679.1:g.7126070C>T
NC_000017.9:g.7066794C>T
NG_007975.1:g.7918C>T
NG_008391.2:g.2300G>A
ENST00000356839.10:c.963C>T
ENST00000322910.9:c.*918C>T
ENST00000350303.9:c.897C>T
ENST00000356839.9:c.963C>T
ENST00000543245.6:c.1032C>T
ENST00000578824.5:n.112C>T
ENST00000581378.5:c.681C>T
ENST00000582379.1:n.347C>T
NM_000018.3:c.963C>T
NM_001033859.2:c.897C>T
NM_001270447.1:c.1032C>T
NM_001270448.1:c.735C>T
NM_001033859.3:c.897C>T
NM_001270447.2:c.1032C>T
NM_001270448.2:c.735C>T

Likely Benign

Met criteria codes 3
BS1 BP4 BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The NM_000018.4(ACADVL): c.963C>T (p.Asn321=) is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by PhyloP and PhastCons (BP4, BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00523 in South Asian population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.0035) for BS1, and therefore meets this criterion (BS1). 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: BS1, BP4, BP7 (ACADVL VCEP specifications version 1; approved November 9, 2021).
Met criteria codes
BS1
The highest population minor allele frequency in gnomAD v2.1.1 is 0.00523 in South Asian population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.0035) for BS1, and therefore meets this criterion (BS1).
BP4
The computational splicing predictor SpliceAI gives a score of 0 for donor/acceptor loss suggesting that the variant has no impact on splicing (BP4).
BP7
The NM_000018.4(ACADVL):c.963C>T (p.Asn321=) is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by PhyloP and PhastCons (BP4, BP7).
Approved on: 2024-05-28
Published on: 2024-05-28
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