rs387907121
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_001243279.3(ACSF3):c.593T>A(p.Met198Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000437 in 1,601,830 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. M198R) has been classified as Pathogenic.
Frequency
Consequence
NM_001243279.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACSF3 | NM_001243279.3 | c.593T>A | p.Met198Lys | missense_variant | 3/11 | ENST00000614302.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSF3 | ENST00000614302.5 | c.593T>A | p.Met198Lys | missense_variant | 3/11 | 5 | NM_001243279.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151884Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000446 AC: 1AN: 224322Hom.: 0 AF XY: 0.00000818 AC XY: 1AN XY: 122296
GnomAD4 exome AF: 0.00000414 AC: 6AN: 1449946Hom.: 0 Cov.: 89 AF XY: 0.00000417 AC XY: 3AN XY: 720178
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151884Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at