18-9562042-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042388.3(PPP4R1):c.1780G>A(p.Asp594Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000036 in 1,613,018 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249276Hom.: 1 AF XY: 0.0000370 AC XY: 5AN XY: 135234
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1460864Hom.: 1 Cov.: 29 AF XY: 0.0000358 AC XY: 26AN XY: 726816
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1780G>A (p.D594N) alteration is located in exon 13 (coding exon 13) of the PPP4R1 gene. This alteration results from a G to A substitution at nucleotide position 1780, causing the aspartic acid (D) at amino acid position 594 to be replaced by an asparagine (N). 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