19-38502722-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000540.3(RYR1):c.7830C>G(p.Leu2610=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. L2610L) has been classified as Likely benign.
Frequency
Consequence
NM_000540.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.7830C>G | p.Leu2610= | synonymous_variant | 48/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.7830C>G | p.Leu2610= | synonymous_variant | 48/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.7830C>G | p.Leu2610= | synonymous_variant | 48/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.1284C>G | p.Leu428= | synonymous_variant, NMD_transcript_variant | 9/49 | 1 | |||
RYR1 | ENST00000599547.6 | c.7830C>G | p.Leu2610= | synonymous_variant, NMD_transcript_variant | 48/80 | 2 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
RYR1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 23, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.