19-38525368-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP2
The NM_000540.3(RYR1):c.10492C>T(p.Arg3498Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,461,848 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. R3498G) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.10492C>T | p.Arg3498Cys | missense_variant | 71/106 | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.10492C>T | p.Arg3498Cys | missense_variant | 71/106 | 5 | NM_000540.3 | A2 | |
RYR1 | ENST00000355481.8 | c.10477C>T | p.Arg3493Cys | missense_variant | 70/105 | 1 | P4 | ||
RYR1 | ENST00000594335.5 | c.*1220C>T | 3_prime_UTR_variant, NMD_transcript_variant | 30/49 | 1 | ||||
RYR1 | ENST00000599547.6 | c.*1251C>T | 3_prime_UTR_variant, NMD_transcript_variant | 70/80 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251258Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135850
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461848Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727228
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at