1-237469144-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_001035.3(RYR2):c.1665C>G(p.Leu555=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,570 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. L555L) has been classified as Likely benign.
Frequency
Consequence
NM_001035.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR2 | NM_001035.3 | c.1665C>G | p.Leu555= | synonymous_variant | 17/105 | ENST00000366574.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.1665C>G | p.Leu555= | synonymous_variant | 17/105 | 1 | NM_001035.3 | P1 | |
RYR2 | ENST00000660292.2 | c.1665C>G | p.Leu555= | synonymous_variant | 17/106 | ||||
RYR2 | ENST00000659194.3 | c.1665C>G | p.Leu555= | synonymous_variant | 17/105 | ||||
RYR2 | ENST00000609119.2 | c.1665C>G | p.Leu555= | synonymous_variant, NMD_transcript_variant | 17/104 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460570Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726576
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Catecholaminergic polymorphic ventricular tachycardia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Sep 17, 2023 | - - |
Catecholaminergic polymorphic ventricular tachycardia 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 12, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at