rs3751143
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000328963.10(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
ENST00000328963.10 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 | |
LOC105370032 | XR_001749352.3 | n.327+18997T>G | intron_variant, non_coding_transcript_variant |
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 | P1 | |
ENST00000652651.1 | n.3548+1700T>G | intron_variant, non_coding_transcript_variant |
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