chr8-53958286-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_170587.4(RGS20):c.995G>A(p.Arg332Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000323 in 1,611,636 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R332W) has been classified as Uncertain significance.
Frequency
Consequence
NM_170587.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RGS20 | NM_170587.4 | c.995G>A | p.Arg332Gln | missense_variant | 6/6 | ENST00000297313.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS20 | ENST00000297313.8 | c.995G>A | p.Arg332Gln | missense_variant | 6/6 | 1 | NM_170587.4 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152050Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000562 AC: 14AN: 249006Hom.: 0 AF XY: 0.0000520 AC XY: 7AN XY: 134642
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1459586Hom.: 0 Cov.: 30 AF XY: 0.0000275 AC XY: 20AN XY: 726062
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152050Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 29, 2023 | The c.995G>A (p.R332Q) alteration is located in exon 6 (coding exon 6) of the RGS20 gene. This alteration results from a G to A substitution at nucleotide position 995, causing the arginine (R) at amino acid position 332 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