rs200068725
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PP3_ModerateBP6
The NM_000540.3(RYR1):c.9063G>A(p.Pro3021=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000669 in 1,613,850 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000540.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.9063G>A | p.Pro3021= | synonymous_variant | 60/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.9063G>A | p.Pro3021= | synonymous_variant | 60/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.9063G>A | p.Pro3021= | synonymous_variant | 60/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.2517G>A | p.Pro839= | synonymous_variant, NMD_transcript_variant | 21/49 | 1 | |||
RYR1 | ENST00000599547.6 | c.9063G>A | p.Pro3021= | synonymous_variant, NMD_transcript_variant | 60/80 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000855 AC: 13AN: 151964Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251484Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135916
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1461886Hom.: 0 Cov.: 32 AF XY: 0.0000784 AC XY: 57AN XY: 727242
GnomAD4 genome ? AF: 0.0000855 AC: 13AN: 151964Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74204
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Aug 23, 2019 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 11, 2015 | - - |
RYR1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at