rs2229116
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001036.6(RYR3):āc.2191A>Gā(p.Ile731Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.221 in 1,612,830 control chromosomes in the GnomAD database, including 40,692 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR3 | NM_001036.6 | c.2191A>G | p.Ile731Val | missense_variant | 19/104 | ENST00000634891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR3 | ENST00000634891.2 | c.2191A>G | p.Ile731Val | missense_variant | 19/104 | 1 | NM_001036.6 | P4 | |
RYR3 | ENST00000389232.9 | c.2191A>G | p.Ile731Val | missense_variant | 19/104 | 5 | A1 | ||
RYR3 | ENST00000415757.7 | c.2191A>G | p.Ile731Val | missense_variant | 19/103 | 2 | A2 | ||
RYR3 | ENST00000634418.1 | c.2191A>G | p.Ile731Val | missense_variant | 19/102 | 5 |
Frequencies
GnomAD3 genomes AF: 0.206 AC: 31366AN: 151930Hom.: 3386 Cov.: 32
GnomAD3 exomes AF: 0.230 AC: 56968AN: 247702Hom.: 6925 AF XY: 0.228 AC XY: 30700AN XY: 134480
GnomAD4 exome AF: 0.223 AC: 325218AN: 1460780Hom.: 37299 Cov.: 33 AF XY: 0.223 AC XY: 161949AN XY: 726660
GnomAD4 genome AF: 0.207 AC: 31408AN: 152050Hom.: 3393 Cov.: 32 AF XY: 0.211 AC XY: 15690AN XY: 74330
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at