rs200724716
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001036.6(RYR3):c.648A>G(p.Gly216Gly) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000334 in 1,586,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001036.6 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000237 AC: 36AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248916Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135066
GnomAD4 exome AF: 0.0000119 AC: 17AN: 1434520Hom.: 0 Cov.: 27 AF XY: 0.00000978 AC XY: 7AN XY: 715652
GnomAD4 genome AF: 0.000236 AC: 36AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74466
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at