1-200648515-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001031725.6(DDX59):c.1520G>A(p.Arg507Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001031725.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251408Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135858
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461792Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727208
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74328
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1520G>A (p.R507Q) alteration is located in exon 7 (coding exon 6) of the DDX59 gene. This alteration results from a G to A substitution at nucleotide position 1520, causing the arginine (R) at amino acid position 507 to be replaced by a glutamine (Q). 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