rs1211886095
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_000540.3(RYR1):c.12897G>A(p.Ala4299=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000119 in 842,832 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A4299A) has been classified as Likely benign.
Frequency
Consequence
NM_000540.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.12897G>A | p.Ala4299= | synonymous_variant | 91/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.12897G>A | p.Ala4299= | synonymous_variant | 91/106 | 5 | NM_000540.3 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 146240Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.0000119 AC: 10AN: 842832Hom.: 0 Cov.: 30 AF XY: 0.0000102 AC XY: 4AN XY: 390362
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000684 AC: 1AN: 146240Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71120
ClinVar
Submissions by phenotype
RYR1-Related Disorders 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