rs114522234
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000540.3(RYR1):c.7835+7C>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000119 in 1,264,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000540.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR1 | NM_000540.3 | c.7835+7C>G | splice_region_variant, intron_variant | ENST00000359596.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596.8 | c.7835+7C>G | splice_region_variant, intron_variant | 5 | NM_000540.3 | A2 | |||
RYR1 | ENST00000355481.8 | c.7835+7C>G | splice_region_variant, intron_variant | 1 | P4 | ||||
RYR1 | ENST00000594335.5 | c.1287+7C>G | splice_region_variant, intron_variant, NMD_transcript_variant | 1 | |||||
RYR1 | ENST00000599547.6 | c.7835+7C>G | splice_region_variant, intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 2AN: 101642Hom.: 0 Cov.: 20
GnomAD3 exomes AF: 0.0000140 AC: 3AN: 214848Hom.: 0 AF XY: 0.0000253 AC XY: 3AN XY: 118666
GnomAD4 exome AF: 0.0000112 AC: 13AN: 1163058Hom.: 0 Cov.: 36 AF XY: 0.0000103 AC XY: 6AN XY: 583154
GnomAD4 genome ? AF: 0.0000197 AC: 2AN: 101642Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 47046
ClinVar
Submissions by phenotype
RYR1-Related Disorders Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 22, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at