1-163074342-A-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005613.6(RGS4):c.400A>T(p.Arg134Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,722 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 (★).
Frequency
Consequence
NM_005613.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RGS4 | NM_005613.6 | c.400A>T | p.Arg134Trp | missense_variant | Exon 5 of 5 | ENST00000367909.11 | NP_005604.1 | |
RGS4 | NM_001102445.3 | c.691A>T | p.Arg231Trp | missense_variant | Exon 6 of 6 | NP_001095915.1 | ||
RGS4 | NM_001113380.1 | c.346A>T | p.Arg116Trp | missense_variant | Exon 5 of 5 | NP_001106851.1 | ||
RGS4 | NM_001113381.1 | c.233A>T | p.Gln78Leu | missense_variant | Exon 4 of 4 | NP_001106852.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251140 AF XY: 0.00000737 show subpopulations
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461542Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727088 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.691A>T (p.R231W) alteration is located in exon 6 (coding exon 6) of the RGS4 gene. This alteration results from a A to T substitution at nucleotide position 691, causing the arginine (R) at amino acid position 231 to be replaced by a tryptophan (W). 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