chr12-132621888-T-A
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_170682.4(P2RX2):c.1332T>A(p.Pro444Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000518 in 1,608,504 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_170682.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00272 AC: 407AN: 149502Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000735 AC: 184AN: 250390Hom.: 3 AF XY: 0.000546 AC XY: 74AN XY: 135560
GnomAD4 exome AF: 0.000292 AC: 426AN: 1458884Hom.: 3 Cov.: 34 AF XY: 0.000233 AC XY: 169AN XY: 725944
GnomAD4 genome AF: 0.00272 AC: 407AN: 149620Hom.: 2 Cov.: 33 AF XY: 0.00269 AC XY: 197AN XY: 73180
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
Pro470Pro in exon 10B of P2RX2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.8% (80/4404) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs116834114). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at