rs919989129
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001035.3(RYR2):c.11385C>A(p.Gly3795=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,126 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G3795G) has been classified as Likely benign.
Frequency
Consequence
NM_001035.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR2 | NM_001035.3 | c.11385C>A | p.Gly3795= | synonymous_variant | 83/105 | ENST00000366574.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.11385C>A | p.Gly3795= | synonymous_variant | 83/105 | 1 | NM_001035.3 | P1 | |
RYR2 | ENST00000660292.2 | c.11373C>A | p.Gly3791= | synonymous_variant | 83/106 | ||||
RYR2 | ENST00000659194.3 | c.11373C>A | p.Gly3791= | synonymous_variant | 83/105 | ||||
RYR2 | ENST00000609119.2 | c.*2477C>A | 3_prime_UTR_variant, NMD_transcript_variant | 82/104 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248136Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134664
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459126Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726014
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jun 10, 2016 | p.Gly3795Gly in exon 83 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at