18-9557301-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042388.3(PPP4R1):c.2110G>C(p.Val704Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000098 in 1,613,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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: 0.000105 AC: 16AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000169 AC: 42AN: 248520Hom.: 0 AF XY: 0.000178 AC XY: 24AN XY: 134866
GnomAD4 exome AF: 0.0000972 AC: 142AN: 1460754Hom.: 0 Cov.: 30 AF XY: 0.000103 AC XY: 75AN XY: 726696
GnomAD4 genome AF: 0.000105 AC: 16AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2110G>C (p.V704L) alteration is located in exon 15 (coding exon 15) of the PPP4R1 gene. This alteration results from a G to C substitution at nucleotide position 2110, causing the valine (V) at amino acid position 704 to be replaced by a leucine (L). 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