NM_000017.4:c.1054G>T
Variant summary
Our verdict is Likely pathogenic. The variant received 7 ACMG points: 7P and 0B. PM1PM2PM5PP2
The NM_000017.4(ACADS):c.1054G>T(p.Ala352Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,046 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A352T) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000017.4 missense
Scores
Clinical Significance
Conservation
Publications
- short chain acyl-CoA dehydrogenase deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), G2P, PanelApp Australia, Orphanet, ClinGen
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.1054G>T | p.Ala352Ser | missense_variant | Exon 9 of 10 | 1 | NM_000017.4 | ENSP00000242592.4 | ||
ACADS | ENST00000411593.2 | c.1042G>T | p.Ala348Ser | missense_variant | Exon 9 of 10 | 2 | ENSP00000401045.2 | |||
ENSG00000255946 | ENST00000724268.1 | n.305-8876C>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00000405 AC: 1AN: 246988 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460738Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726696 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74472 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at