rs377465289
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001035.3(RYR2):c.4160+7A>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,450,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001035.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.4160+7A>C | splice_region_variant, intron_variant | Intron 31 of 104 | 1 | NM_001035.3 | ENSP00000355533.2 | |||
RYR2 | ENST00000609119.2 | n.4160+7A>C | splice_region_variant, intron_variant | Intron 31 of 103 | 5 | ENSP00000499659.2 | ||||
RYR2 | ENST00000660292.2 | c.4160+7A>C | splice_region_variant, intron_variant | Intron 31 of 105 | ENSP00000499787.2 | |||||
RYR2 | ENST00000659194.3 | c.4160+7A>C | splice_region_variant, intron_variant | Intron 31 of 104 | ENSP00000499653.3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450608Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 720564
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.