17-3690982-TGG-TGGG
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_002561.4(P2RX5):c.333_334insC(p.Asn112GlnfsTer9) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 0)
Exomes 𝑓: 6.8e-7 ( 0 hom. )
Consequence
P2RX5
NM_002561.4 frameshift
NM_002561.4 frameshift
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0370
Genes affected
P2RX5 (HGNC:8536): (purinergic receptor P2X 5) The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
P2RX5 | NM_002561.4 | c.333_334insC | p.Asn112GlnfsTer9 | frameshift_variant | 3/12 | ENST00000225328.10 | |
P2RX5-TAX1BP3 | NR_037928.1 | n.732_733insC | non_coding_transcript_exon_variant | 3/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P2RX5 | ENST00000225328.10 | c.333_334insC | p.Asn112GlnfsTer9 | frameshift_variant | 3/12 | 1 | NM_002561.4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 0
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GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248528Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134644
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GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460376Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 726438
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GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 0 AF XY: 0.0000135 AC XY: 1AN XY: 74194
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ClinVar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at