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.138+2dup

CA658658531

449935 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7e47e813-ca89-44a4-931d-757660c8d6e0

HGVS expressions

NM_000018.4:c.138+2dupT

NM_000018.4:c.138+2dup

NM_000018.4(ACADVL):c.138+2dup

NC_000017.11:g.7220199dup

CM000679.2:g.7220199dup

NC_000017.10:g.7123518dup

CM000679.1:g.7123518dup

NC_000017.9:g.7064242dup

NG_007975.1:g.5366dup

NG_008391.2:g.4852dup

ENST00000356839.10:c.138+2dup

ENST00000322910.9:c.*93+2dup

ENST00000350303.9:c.138+2dup

ENST00000356839.9:c.138+2dup

ENST00000543245.6:c.207+2dup

ENST00000577191.5:n.215+2dup

ENST00000577433.5:n.8dup

ENST00000577857.5:n.228+2dup

ENST00000578269.5:n.247dup

ENST00000578421.1:n.272+2dup

ENST00000579286.5:n.245+2dup

ENST00000579886.2:c.138+2dup

ENST00000580263.5:n.228+2dup

ENST00000581562.5:n.185+2dup

ENST00000582056.5:n.228+2dup

ENST00000582356.5:n.263+2dup

ENST00000583312.5:c.138+2dup

ENST00000584103.5:c.138+2dup

NM_000018.3:c.138+2dup

NM_001033859.2:c.138+2dup

NM_001270447.1:c.207+2dup

NM_001270448.1:c.-91+2dup

NM_001033859.3:c.138+2dup

NM_001270447.2:c.207+2dup

NM_001270448.2:c.-91+2dup

Uncertain Significance

PP3 PM2_Supporting

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.138+2dup (NM_000018.4) variant in ACADVL is an intronic variant which is located in intron 2 close to a donor splice site. This variant is absent from GnomAD v2.1.1 (PM2_Supporting). The results from three in silico splicing predictors (SpliceSiteFinder, MaxEntScn, and SpliceAI [donor loss = 0.59]) indicate that this variant may affect splicing by disrupting the donor splice site of intron 2 of ACADVL (PP3). Due to limited evidence, this variant is classified as a variant of uncertain significance 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: PM2_Supporting, PP3 (ACADVL VCEP specifications version 1; approved November 9, 2021).

PP3

The results from three in silico splicing predictors (SSF, MaxEnt, and GeneSplicer) indicate that this variant may affect splicing by disrupting the donor splice site of intron 2 of ACADVL (PP3).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

Approved on: 2024-02-27

Published on: 2024-02-27

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