rs199968653
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_001036.6(RYR3):c.78C>A(p.Ile26=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000871 in 1,613,856 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. I26I) has been classified as Likely benign.
Frequency
Consequence
NM_001036.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.78C>A | p.Ile26= | synonymous_variant | 2/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.78C>A | p.Ile26= | synonymous_variant | 2/104 | 1 | NM_001036.6 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000730 AC: 111AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00174 AC: 434AN: 249248Hom.: 6 AF XY: 0.00226 AC XY: 305AN XY: 135222
GnomAD4 exome AF: 0.000885 AC: 1293AN: 1461622Hom.: 13 Cov.: 32 AF XY: 0.00124 AC XY: 902AN XY: 727108
GnomAD4 genome AF: 0.000742 AC: 113AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.000927 AC XY: 69AN XY: 74448
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Sep 07, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at