rs28940875
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_000017.4(ACADS):āc.1138C>Gā(p.Arg380Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,460,716 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. R380W) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000017.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACADS | NM_000017.4 | c.1138C>G | p.Arg380Gly | missense_variant | 10/10 | ENST00000242592.9 | |
ACADS | NM_001302554.2 | c.1126C>G | p.Arg376Gly | missense_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.1138C>G | p.Arg380Gly | missense_variant | 10/10 | 1 | NM_000017.4 | P1 | |
ACADS | ENST00000411593.2 | c.1126C>G | p.Arg376Gly | missense_variant | 10/10 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248232Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135028
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460716Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 726664
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at