chr15-33660308-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001036.6(RYR3):c.4507A>T(p.Met1503Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,429,130 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. M1503I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.4507A>T | p.Met1503Leu | missense_variant | 34/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.4507A>T | p.Met1503Leu | missense_variant | 34/104 | 1 | NM_001036.6 | P4 | |
RYR3 | ENST00000389232.9 | c.4507A>T | p.Met1503Leu | missense_variant | 34/104 | 5 | A1 | ||
RYR3 | ENST00000415757.7 | c.4507A>T | p.Met1503Leu | missense_variant | 34/103 | 2 | A2 | ||
RYR3 | ENST00000634418.1 | c.4507A>T | p.Met1503Leu | missense_variant | 34/102 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000100 AC: 2AN: 199142Hom.: 0 AF XY: 0.00000936 AC XY: 1AN XY: 106874
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1429130Hom.: 0 Cov.: 32 AF XY: 0.00000141 AC XY: 1AN XY: 707576
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at