11-73234508-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002564.4(P2RY2):c.349C>A(p.Leu117Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,460,856 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
P2RY2 | NM_002564.4 | c.349C>A | p.Leu117Ile | missense_variant | Exon 3 of 3 | ENST00000393597.7 | NP_002555.4 | |
P2RY2 | NM_176071.3 | c.349C>A | p.Leu117Ile | missense_variant | Exon 3 of 3 | NP_788085.3 | ||
P2RY2 | NM_176072.3 | c.349C>A | p.Leu117Ile | 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.349C>A | p.Leu117Ile | missense_variant | Exon 3 of 3 | 1 | NM_002564.4 | ENSP00000377222.2 | ||
P2RY2 | ENST00000311131.6 | c.349C>A | p.Leu117Ile | missense_variant | Exon 3 of 3 | 1 | ENSP00000310305.2 | |||
P2RY2 | ENST00000393596.2 | c.349C>A | p.Leu117Ile | missense_variant | Exon 3 of 3 | 1 | ENSP00000377221.2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250324Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135258
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460856Hom.: 0 Cov.: 56 AF XY: 0.00000413 AC XY: 3AN XY: 726626
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.349C>A (p.L117I) alteration is located in exon 3 (coding exon 1) of the P2RY2 gene. This alteration results from a C to A substitution at nucleotide position 349, causing the leucine (L) at amino acid position 117 to be replaced by an isoleucine (I). 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