rs558910032
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001035.3(RYR2):c.10557G>A(p.Leu3519Leu) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,449,566 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001035.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.10557G>A | p.Leu3519Leu | splice_region_variant, synonymous_variant | Exon 74 of 105 | 1 | NM_001035.3 | ENSP00000355533.2 | ||
RYR2 | ENST00000661330.1 | c.363G>A | p.Leu121Leu | splice_region_variant, synonymous_variant | Exon 5 of 12 | ENSP00000499393.2 | ||||
RYR2 | ENST00000609119.2 | n.*1592G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 72 of 104 | 5 | ENSP00000499659.2 | ||||
RYR2 | ENST00000609119.2 | n.*1592G>A | 3_prime_UTR_variant | Exon 72 of 104 | 5 | ENSP00000499659.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1449566Hom.: 0 Cov.: 29 AF XY: 0.00000139 AC XY: 1AN XY: 720546
GnomAD4 genome Cov.: 33
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