rs201051485
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001036.6(RYR3):c.4380A>C(p.Glu1460Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,457,868 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E1460E) has been classified as Likely benign.
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.4380A>C | p.Glu1460Asp | missense_variant | 33/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.4380A>C | p.Glu1460Asp | missense_variant | 33/104 | 1 | NM_001036.6 | P4 | |
RYR3 | ENST00000389232.9 | c.4380A>C | p.Glu1460Asp | missense_variant | 33/104 | 5 | A1 | ||
RYR3 | ENST00000415757.7 | c.4380A>C | p.Glu1460Asp | missense_variant | 33/103 | 2 | A2 | ||
RYR3 | ENST00000634418.1 | c.4380A>C | p.Glu1460Asp | missense_variant | 33/102 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248906Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135046
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457868Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725408
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at