chr1-192578225-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002922.4(RGS1):c.284G>A(p.Gly95Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,320 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. G95V) has been classified as Uncertain significance.
Frequency
Consequence
NM_002922.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RGS1 | NM_002922.4 | c.284G>A | p.Gly95Asp | missense_variant | 4/5 | ENST00000367459.8 | NP_002913.3 | |
LOC105371664 | XR_002958418.2 | n.288-11009C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RGS1 | ENST00000367459.8 | c.284G>A | p.Gly95Asp | missense_variant | 4/5 | 1 | NM_002922.4 | ENSP00000356429.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247860Hom.: 0 AF XY: 0.00000747 AC XY: 1AN XY: 133792
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457320Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724702
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 24, 2023 | The c.284G>A (p.G95D) alteration is located in exon 4 (coding exon 4) of the RGS1 gene. This alteration results from a G to A substitution at nucleotide position 284, causing the glycine (G) at amino acid position 95 to be replaced by an aspartic acid (D). 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