rs369840561
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000017.4(ACADS):c.1198C>A(p.Leu400Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,014 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. L400V) has been classified as Likely benign.
Frequency
Consequence
NM_000017.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACADS | NM_000017.4 | c.1198C>A | p.Leu400Met | missense_variant | 10/10 | ENST00000242592.9 | |
ACADS | NM_001302554.2 | c.1186C>A | p.Leu396Met | missense_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.1198C>A | p.Leu400Met | missense_variant | 10/10 | 1 | NM_000017.4 | P1 | |
ACADS | ENST00000411593.2 | c.1186C>A | p.Leu396Met | missense_variant | 10/10 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 152164Hom.: 0 Cov.: 33 FAILED QC
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245256Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134032
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460014Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726382
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at