15-33311062-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001036.6(RYR3):āc.17A>Gā(p.Glu6Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000191 in 1,582,534 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001036.6 missense
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: 0.000270 AC: 41AN: 151940Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000454 AC: 100AN: 220478Hom.: 0 AF XY: 0.000504 AC XY: 61AN XY: 121102
GnomAD4 exome AF: 0.000183 AC: 262AN: 1430476Hom.: 0 Cov.: 30 AF XY: 0.000184 AC XY: 131AN XY: 711212
GnomAD4 genome AF: 0.000270 AC: 41AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.17A>G (p.E6G) alteration is located in exon 1 (coding exon 1) of the RYR3 gene. This alteration results from a A to G substitution at nucleotide position 17, causing the glutamic acid (E) at amino acid position 6 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Epileptic encephalopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at