rs754921445
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004818.3(DDX23):āc.2069A>Gā(p.Asn690Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,932 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 (ā ).
Frequency
Consequence
NM_004818.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DDX23 | NM_004818.3 | c.2069A>G | p.Asn690Ser | missense_variant | Exon 16 of 17 | ENST00000308025.8 | NP_004809.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251372Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135858
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461850Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727232
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74282
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2069A>G (p.N690S) alteration is located in exon 16 (coding exon 15) of the DDX23 gene. This alteration results from a A to G substitution at nucleotide position 2069, causing the asparagine (N) at amino acid position 690 to be replaced by a serine (S). 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