NM_170682.4:c.62G>A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_170682.4(P2RX2):c.62G>A(p.Cys21Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00047 in 1,378,608 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_170682.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000386 AC: 58AN: 150308Hom.: 1 Cov.: 29
GnomAD3 exomes AF: 0.00111 AC: 142AN: 128490Hom.: 2 AF XY: 0.00159 AC XY: 116AN XY: 73002
GnomAD4 exome AF: 0.000480 AC: 589AN: 1228192Hom.: 12 Cov.: 31 AF XY: 0.000671 AC XY: 405AN XY: 603610
GnomAD4 genome AF: 0.000392 AC: 59AN: 150416Hom.: 1 Cov.: 29 AF XY: 0.000599 AC XY: 44AN XY: 73474
ClinVar
Submissions by phenotype
not provided Benign:2
See Variant Classification Assertion Criteria. -
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P2RX2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at