rs138901366
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001036.6(RYR3):c.52-8_52-6delCCT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00379 in 1,613,720 control chromosomes in the GnomAD database, including 181 homozygotes. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001036.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0196 AC: 2982AN: 152088Hom.: 94 Cov.: 32
GnomAD3 exomes AF: 0.00518 AC: 1290AN: 249110Hom.: 37 AF XY: 0.00373 AC XY: 504AN XY: 135146
GnomAD4 exome AF: 0.00214 AC: 3129AN: 1461514Hom.: 87 AF XY: 0.00182 AC XY: 1320AN XY: 727038
GnomAD4 genome AF: 0.0196 AC: 2986AN: 152206Hom.: 94 Cov.: 32 AF XY: 0.0194 AC XY: 1441AN XY: 74412
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
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RYR3-related disorder Benign:1
This variant is classified as 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