rs148409834
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002561.4(P2RX5):c.943G>T(p.Ala315Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A315T) has been classified as Uncertain significance.
Frequency
Consequence
NM_002561.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
P2RX5 | ENST00000225328.10 | c.943G>T | p.Ala315Ser | missense_variant | Exon 9 of 12 | 1 | NM_002561.4 | ENSP00000225328.5 | ||
P2RX5 | ENST00000697413.1 | c.943G>T | p.Ala315Ser | missense_variant | Exon 9 of 13 | ENSP00000513301.1 | ||||
P2RX5-TAX1BP3 | ENST00000550383.1 | n.943G>T | non_coding_transcript_exon_variant | Exon 9 of 15 | 2 | ENSP00000455681.1 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.