rs377360254
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001036.6(RYR3):c.4431T>A(p.Ser1477Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.4431T>A | p.Ser1477Arg | missense_variant | 34/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.4431T>A | p.Ser1477Arg | missense_variant | 34/104 | 1 | NM_001036.6 | P4 | |
RYR3 | ENST00000389232.9 | c.4431T>A | p.Ser1477Arg | missense_variant | 34/104 | 5 | A1 | ||
RYR3 | ENST00000415757.7 | c.4431T>A | p.Ser1477Arg | missense_variant | 34/103 | 2 | A2 | ||
RYR3 | ENST00000634418.1 | c.4431T>A | p.Ser1477Arg | missense_variant | 34/102 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000628 AC: 1AN: 159268Hom.: 0 AF XY: 0.0000119 AC XY: 1AN XY: 84154
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at