rs1373305585
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000017.4(ACADS):āc.859C>Gā(p.Leu287Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,858 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.
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACADS | NM_000017.4 | c.859C>G | p.Leu287Val | missense_variant | 7/10 | ENST00000242592.9 | NP_000008.1 | |
ACADS | NM_001302554.2 | c.847C>G | p.Leu283Val | missense_variant | 7/10 | NP_001289483.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.859C>G | p.Leu287Val | missense_variant | 7/10 | 1 | NM_000017.4 | ENSP00000242592.4 | ||
ACADS | ENST00000411593.2 | c.847C>G | p.Leu283Val | missense_variant | 7/10 | 2 | ENSP00000401045.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250350Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135432
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460858Hom.: 0 Cov.: 43 AF XY: 0.00000138 AC XY: 1AN XY: 726796
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at