rs371157868
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PP2PP3_ModerateBS2
The NM_001035.3(RYR2):c.2402G>A(p.Arg801His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000499 in 1,604,540 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R801C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001035.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RYR2 | NM_001035.3 | c.2402G>A | p.Arg801His | missense_variant | 22/105 | ENST00000366574.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RYR2 | ENST00000366574.7 | c.2402G>A | p.Arg801His | missense_variant | 22/105 | 1 | NM_001035.3 | P1 | |
RYR2 | ENST00000660292.2 | c.2402G>A | p.Arg801His | missense_variant | 22/106 | ||||
RYR2 | ENST00000659194.3 | c.2402G>A | p.Arg801His | missense_variant | 22/105 | ||||
RYR2 | ENST00000609119.2 | c.2402G>A | p.Arg801His | missense_variant, NMD_transcript_variant | 22/104 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1452436Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 721584
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at