rs764730525
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001036.6(RYR3):āc.4811C>Gā(p.Ser1604Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,612,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. 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. S1604F) has been classified as Uncertain significance.
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.4811C>G | p.Ser1604Cys | missense_variant | 35/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.4811C>G | p.Ser1604Cys | missense_variant | 35/104 | 1 | NM_001036.6 | P4 | |
RYR3 | ENST00000389232.9 | c.4811C>G | p.Ser1604Cys | missense_variant | 35/104 | 5 | A1 | ||
RYR3 | ENST00000415757.7 | c.4811C>G | p.Ser1604Cys | missense_variant | 35/103 | 2 | A2 | ||
RYR3 | ENST00000634418.1 | c.4811C>G | p.Ser1604Cys | missense_variant | 35/102 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 246042Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133464
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460260Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726254
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at