1-237511741-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001035.3(RYR2):c.2772G>T(p.Leu924Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000191 in 1,567,636 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. L924L) has been classified as Likely benign.
Frequency
Consequence
NM_001035.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.2772G>T | p.Leu924Leu | synonymous_variant | Exon 24 of 105 | 1 | NM_001035.3 | ENSP00000355533.2 | ||
RYR2 | ENST00000609119.2 | n.2772G>T | non_coding_transcript_exon_variant | Exon 24 of 104 | 5 | ENSP00000499659.2 | ||||
RYR2 | ENST00000660292.2 | c.2772G>T | p.Leu924Leu | synonymous_variant | Exon 24 of 106 | ENSP00000499787.2 | ||||
RYR2 | ENST00000659194.3 | c.2772G>T | p.Leu924Leu | synonymous_variant | Exon 24 of 105 | ENSP00000499653.3 |
Frequencies
GnomAD3 genomes AF: 0.00000668 AC: 1AN: 149664Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000141 AC: 2AN: 1417972Hom.: 0 Cov.: 31 AF XY: 0.00000285 AC XY: 2AN XY: 701794
GnomAD4 genome AF: 0.00000668 AC: 1AN: 149664Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 72656
ClinVar
Submissions by phenotype
Catecholaminergic polymorphic ventricular tachycardia 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at