19-5786506-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020175.3(DUS3L):c.1523G>A(p.Arg508His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000447 in 1,613,100 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R508C) has been classified as Uncertain significance.
Frequency
Consequence
NM_020175.3 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: 0.000309 AC: 47AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000220 AC: 55AN: 250126Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135574
GnomAD4 exome AF: 0.000461 AC: 674AN: 1460834Hom.: 1 Cov.: 31 AF XY: 0.000473 AC XY: 344AN XY: 726684
GnomAD4 genome AF: 0.000309 AC: 47AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1523G>A (p.R508H) alteration is located in exon 10 (coding exon 10) of the DUS3L gene. This alteration results from a G to A substitution at nucleotide position 1523, causing the arginine (R) at amino acid position 508 to be replaced by a histidine (H). 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