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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002562.6 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 | UniProt |
---|---|---|---|---|---|---|---|
P2RX7 | NM_002562.6 | c.827G>A | p.Arg276His | missense_variant | 8/13 | ENST00000328963.10 | |
LOC105370032 | XR_001749352.3 | n.327+35928C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P2RX7 | ENST00000328963.10 | c.827G>A | p.Arg276His | missense_variant | 8/13 | 1 | NM_002562.6 | P1 |
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