NM_001035.3:c.8831-9A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001035.3(RYR2):c.8831-9A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000698 in 1,432,020 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 Uncertain significance (★).
Frequency
Consequence
NM_001035.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.8831-9A>G | intron_variant | Intron 60 of 104 | 1 | NM_001035.3 | ENSP00000355533.2 | |||
RYR2 | ENST00000609119.2 | n.8831-2417A>G | intron_variant | Intron 60 of 103 | 5 | ENSP00000499659.2 | ||||
RYR2 | ENST00000660292.2 | c.8831-9A>G | intron_variant | Intron 60 of 105 | ENSP00000499787.2 | |||||
RYR2 | ENST00000659194.3 | c.8831-9A>G | intron_variant | Intron 60 of 104 | ENSP00000499653.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.98e-7 AC: 1AN: 1432020Hom.: 0 Cov.: 25 AF XY: 0.00000140 AC XY: 1AN XY: 713392
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.