rs746348043
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PP2PP3_Moderate
The NM_000540.3(RYR1):c.7742C>G(p.Ser2581Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,110 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. S2581F) has been classified as Uncertain significance.
Frequency
Consequence
NM_000540.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.7742C>G | p.Ser2581Cys | missense_variant | 48/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.7742C>G | p.Ser2581Cys | missense_variant | 48/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.7742C>G | p.Ser2581Cys | missense_variant | 48/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.1196C>G | p.Ser399Cys | missense_variant, NMD_transcript_variant | 9/49 | 1 | |||
RYR1 | ENST00000599547.6 | c.7742C>G | p.Ser2581Cys | missense_variant, NMD_transcript_variant | 48/80 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151854Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250516Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135650
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461138Hom.: 0 Cov.: 36 AF XY: 0.00000688 AC XY: 5AN XY: 726892
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151972Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74264
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at