19-38469316-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP2
The NM_000540.3(RYR1):āc.3568G>Cā(p.Val1190Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,618 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1190I) has been classified as Uncertain significance.
Frequency
Consequence
NM_000540.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.3568G>C | p.Val1190Leu | missense_variant | 27/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.3568G>C | p.Val1190Leu | missense_variant | 27/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.3568G>C | p.Val1190Leu | missense_variant | 27/105 | 1 | P4 | ||
RYR1 | ENST00000599547.6 | c.3568G>C | p.Val1190Leu | missense_variant, NMD_transcript_variant | 27/80 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461688Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727150
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74154
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at