rs201465595
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP2PP3_Strong
The NM_000540.3(RYR1):c.6700C>A(p.Arg2234Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R2234C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000540.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.6700C>A | p.Arg2234Ser | missense_variant | 41/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.6700C>A | p.Arg2234Ser | missense_variant | 41/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.6700C>A | p.Arg2234Ser | missense_variant | 41/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.154C>A | p.Arg52Ser | missense_variant, NMD_transcript_variant | 2/49 | 1 | |||
RYR1 | ENST00000599547.6 | c.6700C>A | p.Arg2234Ser | missense_variant, NMD_transcript_variant | 41/80 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at