rs7958316
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_002562.6(P2RX7):c.827G>A(p.Arg276His) variant causes a missense change. The variant allele was found at a frequency of 0.0191 in 1,612,124 control chromosomes in the GnomAD database, including 371 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 the same amino acid substitution has been previously reported as Likely benign in 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
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0161 AC: 2441AN: 152024Hom.: 29 Cov.: 31
GnomAD3 exomes AF: 0.0178 AC: 4442AN: 249296Hom.: 59 AF XY: 0.0191 AC XY: 2576AN XY: 134856
GnomAD4 exome AF: 0.0194 AC: 28300AN: 1459982Hom.: 344 Cov.: 32 AF XY: 0.0200 AC XY: 14492AN XY: 726364
GnomAD4 genome AF: 0.0160 AC: 2439AN: 152142Hom.: 27 Cov.: 31 AF XY: 0.0168 AC XY: 1249AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at