18-9559427-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001042388.3(PPP4R1):c.2020G>T(p.Asp674Tyr) 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042388.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000810 AC: 2AN: 246796Hom.: 0 AF XY: 0.00000747 AC XY: 1AN XY: 133858
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1457774Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725002
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2020G>T (p.D674Y) alteration is located in exon 14 (coding exon 14) of the PPP4R1 gene. This alteration results from a G to T substitution at nucleotide position 2020, causing the aspartic acid (D) at amino acid position 674 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at