12-63569344-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_173812.5(DPY19L2):c.2006G>A(p.Arg669Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000861 in 1,579,006 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_173812.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 151746Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000599 AC: 14AN: 233796Hom.: 0 AF XY: 0.0000631 AC XY: 8AN XY: 126816
GnomAD4 exome AF: 0.0000799 AC: 114AN: 1427260Hom.: 0 Cov.: 29 AF XY: 0.0000846 AC XY: 60AN XY: 709524
GnomAD4 genome AF: 0.000145 AC: 22AN: 151746Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74102
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2006G>A (p.R669Q) alteration is located in exon 21 (coding exon 21) of the DPY19L2 gene. This alteration results from a G to A substitution at nucleotide position 2006, causing the arginine (R) at amino acid position 669 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