rs368500899
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000017.4(ACADS):c.460C>A(p.Leu154Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,946 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. L154F) has been classified as Uncertain significance.
Frequency
Consequence
NM_000017.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACADS | NM_000017.4 | c.460C>A | p.Leu154Ile | missense_variant | 4/10 | ENST00000242592.9 | |
ACADS | NM_001302554.2 | c.460C>A | p.Leu154Ile | missense_variant | 4/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.460C>A | p.Leu154Ile | missense_variant | 4/10 | 1 | NM_000017.4 | P1 | |
ACADS | ENST00000411593.2 | c.460C>A | p.Leu154Ile | missense_variant | 4/10 | 2 | |||
ACADS | ENST00000539690.1 | n.792C>A | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251158Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135792
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461592Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727100
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74504
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at