12-48830557-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004818.3(DDX23):c.2375C>G(p.Pro792Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004818.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DDX23 | NM_004818.3 | c.2375C>G | p.Pro792Arg | missense_variant | Exon 17 of 17 | ENST00000308025.8 | NP_004809.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with visual defects and brain anomalies Uncertain:1
The observed missense variant c.2375C>Gp.Pro792Arg in DDX23 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro792Arg variant is absent in gnomAD Exomes. The amino acid Pro at position 792 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro792Arg in DDX23 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence Polyphen-probably damaging, SIFT-damaging and Mutation Taster-disease causing predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.