rs17525809
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002562.6(P2RX7):āc.227T>Cā(p.Val76Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0691 in 1,613,982 control chromosomes in the GnomAD database, including 4,300 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V76M) has been classified as Uncertain significance.
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.227T>C | p.Val76Ala | missense_variant | 2/13 | ENST00000328963.10 | |
LOC105370032 | XR_001749352.3 | n.328-28045A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P2RX7 | ENST00000328963.10 | c.227T>C | p.Val76Ala | missense_variant | 2/13 | 1 | NM_002562.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0531 AC: 8085AN: 152148Hom.: 260 Cov.: 32
GnomAD3 exomes AF: 0.0589 AC: 14803AN: 251476Hom.: 514 AF XY: 0.0624 AC XY: 8475AN XY: 135910
GnomAD4 exome AF: 0.0708 AC: 103505AN: 1461716Hom.: 4040 Cov.: 32 AF XY: 0.0718 AC XY: 52186AN XY: 727148
GnomAD4 genome AF: 0.0531 AC: 8089AN: 152266Hom.: 260 Cov.: 32 AF XY: 0.0531 AC XY: 3956AN XY: 74458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at