8-99981942-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015668.5(RGS22):c.3355G>A(p.Ala1119Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000305 in 1,607,584 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015668.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
RGS22 | ENST00000360863.11 | c.3355G>A | p.Ala1119Thr | missense_variant | Exon 22 of 28 | 1 | NM_015668.5 | ENSP00000354109.6 | ||
RGS22 | ENST00000523437.5 | c.3319G>A | p.Ala1107Thr | missense_variant | Exon 22 of 28 | 1 | ENSP00000428212.1 | |||
RGS22 | ENST00000523287.5 | c.2812G>A | p.Ala938Thr | missense_variant | Exon 20 of 26 | 2 | ENSP00000429382.1 | |||
RGS22 | ENST00000517769.5 | n.1583G>A | non_coding_transcript_exon_variant | Exon 11 of 17 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000178 AC: 27AN: 151988Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000452 AC: 11AN: 243298Hom.: 0 AF XY: 0.0000227 AC XY: 3AN XY: 132080
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1455478Hom.: 0 Cov.: 30 AF XY: 0.00000967 AC XY: 7AN XY: 723938
GnomAD4 genome AF: 0.000178 AC: 27AN: 152106Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 8AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3355G>A (p.A1119T) alteration is located in exon 22 (coding exon 22) of the RGS22 gene. This alteration results from a G to A substitution at nucleotide position 3355, causing the alanine (A) at amino acid position 1119 to be replaced by a threonine (T). 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