rs797045935
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_000540.3(RYR1):c.8724C>A(p.Tyr2908Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. Y2908Y) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000540.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.8724C>A | p.Tyr2908Ter | stop_gained | 57/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.8724C>A | p.Tyr2908Ter | stop_gained | 57/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.8724C>A | p.Tyr2908Ter | stop_gained | 57/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.2178C>A | p.Tyr726Ter | stop_gained, NMD_transcript_variant | 18/49 | 1 | |||
RYR1 | ENST00000599547.6 | c.8724C>A | p.Tyr2908Ter | stop_gained, NMD_transcript_variant | 57/80 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 44
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Myopathy Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 01, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at