3-151338052-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM5BP4
The NM_022788.5(P2RY12):c.794G>A(p.Arg265Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,461,764 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R265P) has been classified as Likely pathogenic.
Frequency
Consequence
NM_022788.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
P2RY12 | NM_022788.5 | c.794G>A | p.Arg265Gln | missense_variant | 3/3 | ENST00000302632.4 | |
MED12L | NM_001393769.1 | c.2251-12007C>T | intron_variant | ENST00000687756.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P2RY12 | ENST00000302632.4 | c.794G>A | p.Arg265Gln | missense_variant | 3/3 | 1 | NM_022788.5 | P1 | |
MED12L | ENST00000687756.1 | c.2251-12007C>T | intron_variant | NM_001393769.1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250720Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135488
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461764Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727182
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at