19-38433746-G-GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000540.3(RYR1):c.-81_-80insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000533 in 375,474 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000540.3 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|---|---|---|
RYR1 | ENST00000359596 | c.-81_-80insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | 5_prime_UTR_variant | Exon 1 of 106 | 5 | NM_000540.3 | ENSP00000352608.2 | |||
RYR1 | ENST00000355481 | c.-81_-80insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | 5_prime_UTR_variant | Exon 1 of 105 | 1 | ENSP00000347667.3 | ||||
RYR1 | ENST00000599547.6 | n.-84_-83insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | upstream_gene_variant | 2 | ENSP00000471601.2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000533 AC: 2AN: 375474Hom.: 0 Cov.: 0 AF XY: 0.00000956 AC XY: 2AN XY: 209110
GnomAD4 genome Cov.: 30
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.