11-73234826-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002564.4(P2RY2):c.667C>G(p.Arg223Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,122 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 (★).
Frequency
Consequence
NM_002564.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
P2RY2 | NM_002564.4 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | ENST00000393597.7 | NP_002555.4 | |
P2RY2 | NM_176071.3 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | NP_788085.3 | ||
P2RY2 | NM_176072.3 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | NP_788086.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
P2RY2 | ENST00000393597.7 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | 1 | NM_002564.4 | ENSP00000377222.2 | ||
P2RY2 | ENST00000311131.6 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | 1 | ENSP00000310305.2 | |||
P2RY2 | ENST00000393596.2 | c.667C>G | p.Arg223Gly | missense_variant | Exon 3 of 3 | 1 | ENSP00000377221.2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248668Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134690
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459122Hom.: 0 Cov.: 56 AF XY: 0.00 AC XY: 0AN XY: 725990
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.667C>G (p.R223G) alteration is located in exon 3 (coding exon 1) of the P2RY2 gene. This alteration results from a C to G substitution at nucleotide position 667, causing the arginine (R) at amino acid position 223 to be replaced by a glycine (G). 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