rs189282419
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001036.6(RYR3):c.8956G>A(p.Val2986Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00033 in 1,613,686 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00158 AC: 240AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000362 AC: 90AN: 248788Hom.: 0 AF XY: 0.000341 AC XY: 46AN XY: 134948
GnomAD4 exome AF: 0.000200 AC: 292AN: 1461446Hom.: 1 Cov.: 31 AF XY: 0.000180 AC XY: 131AN XY: 726980
GnomAD4 genome AF: 0.00158 AC: 240AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.00153 AC XY: 114AN XY: 74448
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
- -
RYR3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at