rs755712032
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000366574.7(RYR2):c.4684-6C>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000209 in 1,438,078 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
ENST00000366574.7 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RYR2 | NM_001035.3 | c.4684-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000366574.7 | NP_001026.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.4684-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001035.3 | ENSP00000355533 | P1 | |||
RYR2 | ENST00000659194.3 | c.4684-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENSP00000499653 | ||||||
RYR2 | ENST00000660292.2 | c.4684-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENSP00000499787 | ||||||
RYR2 | ENST00000609119.2 | c.4684-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 5 | ENSP00000499659 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000449 AC: 1AN: 222908Hom.: 0 AF XY: 0.00000833 AC XY: 1AN XY: 120096
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1438078Hom.: 0 Cov.: 30 AF XY: 0.00000281 AC XY: 2AN XY: 712586
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at