1-24074228-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_152372.4(MYOM3):c.2900G>A(p.Gly967Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,914 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. G967A) has been classified as Uncertain significance.
Frequency
Consequence
NM_152372.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYOM3 | ENST00000374434.4 | c.2900G>A | p.Gly967Asp | missense_variant | Exon 23 of 37 | 1 | NM_152372.4 | ENSP00000363557.3 | ||
MYOM3-AS1 | ENST00000429191.1 | n.69+7386C>T | intron_variant | Intron 1 of 2 | 3 | |||||
ENSG00000225315 | ENST00000439239.2 | n.404+9955C>T | intron_variant | Intron 3 of 3 | 5 | |||||
MYOM3 | ENST00000448831.1 | n.187+9718G>A | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461830Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727224
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at