12-120739164-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
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 Uncertain significance.
Frequency
Consequence
NM_000017.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACADS | NM_000017.4 | c.1054G>T | p.Ala352Ser | missense_variant | 9/10 | ENST00000242592.9 | |
ACADS | NM_001302554.2 | c.1042G>T | p.Ala348Ser | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.1054G>T | p.Ala352Ser | missense_variant | 9/10 | 1 | NM_000017.4 | P1 | |
ACADS | ENST00000411593.2 | c.1042G>T | p.Ala348Ser | missense_variant | 9/10 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246988Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134660
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460738Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726696
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74472
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at