rs2230912
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002562.6(P2RX7):āc.1379A>Gā(p.Gln460Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.152 in 1,613,940 control chromosomes in the GnomAD database, including 20,186 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict 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.1379A>G | p.Gln460Arg | 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.1379A>G | p.Gln460Arg | missense_variant | 13/13 | 1 | NM_002562.6 | ENSP00000330696.6 |
Frequencies
GnomAD3 genomes AF: 0.118 AC: 17985AN: 152014Hom.: 1308 Cov.: 32
GnomAD3 exomes AF: 0.130 AC: 32655AN: 251306Hom.: 2555 AF XY: 0.138 AC XY: 18692AN XY: 135828
GnomAD4 exome AF: 0.156 AC: 227374AN: 1461808Hom.: 18880 Cov.: 34 AF XY: 0.156 AC XY: 113436AN XY: 727206
GnomAD4 genome AF: 0.118 AC: 17987AN: 152132Hom.: 1306 Cov.: 32 AF XY: 0.116 AC XY: 8659AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at