chr1-237742270-CT-C
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_001035.3(RYR2):c.11092-11delT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.175 in 1,059,846 control chromosomes in the GnomAD database, including 3 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001035.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.11092-25delT | intron_variant | Intron 79 of 104 | 1 | NM_001035.3 | ENSP00000355533.2 | |||
RYR2 | ENST00000661330.1 | c.898-25delT | intron_variant | Intron 10 of 11 | ENSP00000499393.2 | |||||
RYR2 | ENST00000609119.2 | n.*2127-25delT | intron_variant | Intron 77 of 103 | 5 | ENSP00000499659.2 |
Frequencies
GnomAD3 genomes AF: 0.00335 AC: 463AN: 138372Hom.: 2 Cov.: 26
GnomAD4 exome AF: 0.200 AC: 184655AN: 921468Hom.: 1 Cov.: 0 AF XY: 0.204 AC XY: 92704AN XY: 455518
GnomAD4 genome AF: 0.00339 AC: 469AN: 138378Hom.: 2 Cov.: 26 AF XY: 0.00401 AC XY: 269AN XY: 67040
ClinVar
Submissions by phenotype
not specified Benign:1
11092-11delT in intron 79 of RYR2: This variant is not expected to have clinical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a polyT stretch. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at