rs3751143
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002562.6(P2RX7):āc.1487A>Cā(p.Glu496Ala) variant causes a missense change. The variant allele was found at a frequency of 0.182 in 1,613,952 control chromosomes in the GnomAD database, including 28,127 homozygotes. 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002562.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
P2RX7 | NM_002562.6 | c.1487A>C | p.Glu496Ala | missense_variant | 13/13 | ENST00000328963.10 | NP_002553.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
P2RX7 | ENST00000328963.10 | c.1487A>C | p.Glu496Ala | missense_variant | 13/13 | 1 | NM_002562.6 | ENSP00000330696.6 |
Frequencies
GnomAD3 genomes AF: 0.159 AC: 24107AN: 152076Hom.: 2078 Cov.: 32
GnomAD3 exomes AF: 0.189 AC: 47509AN: 251024Hom.: 4876 AF XY: 0.197 AC XY: 26682AN XY: 135708
GnomAD4 exome AF: 0.185 AC: 270026AN: 1461758Hom.: 26057 Cov.: 61 AF XY: 0.189 AC XY: 137326AN XY: 727178
GnomAD4 genome AF: 0.158 AC: 24097AN: 152194Hom.: 2070 Cov.: 32 AF XY: 0.159 AC XY: 11860AN XY: 74396
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at