rs104894711
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BP7
The NM_001022.4(RPS19):c.184C>A(p.Arg62=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,390 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.
Frequency
Consequence
NM_001022.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPS19 | NM_001022.4 | c.184C>A | p.Arg62= | synonymous_variant | 4/6 | ENST00000598742.6 | |
RPS19 | NM_001321485.2 | c.197C>A | p.Ala66Glu | missense_variant | 4/6 | ||
RPS19 | NM_001321483.2 | c.184C>A | p.Arg62= | synonymous_variant | 4/6 | ||
RPS19 | NM_001321484.2 | c.184C>A | p.Arg62= | synonymous_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPS19 | ENST00000598742.6 | c.184C>A | p.Arg62= | synonymous_variant | 4/6 | 1 | NM_001022.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461390Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727008
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at