20-64074280-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005873.3(RGS19):c.326G>A(p.Arg109Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,240 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005873.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RGS19 | ENST00000395042.2 | c.326G>A | p.Arg109Gln | missense_variant | Exon 5 of 6 | 1 | NM_005873.3 | ENSP00000378483.1 | ||
RGS19 | ENST00000332298.9 | c.326G>A | p.Arg109Gln | missense_variant | Exon 5 of 6 | 1 | ENSP00000333194.5 | |||
RGS19 | ENST00000493165.1 | n.*187G>A | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461012Hom.: 0 Cov.: 34 AF XY: 0.00000550 AC XY: 4AN XY: 726854
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.326G>A (p.R109Q) alteration is located in exon 5 (coding exon 4) of the RGS19 gene. This alteration results from a G to A substitution at nucleotide position 326, causing the arginine (R) at amino acid position 109 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at