17-63813449-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP2
The NM_203499.3(DDX42):c.1897A>G(p.Met633Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,613,742 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. M633L) has been classified as Uncertain significance.
Frequency
Consequence
NM_203499.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDX42 | NM_203499.3 | c.1897A>G | p.Met633Val | missense_variant | 15/18 | ENST00000389924.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDX42 | ENST00000389924.7 | c.1897A>G | p.Met633Val | missense_variant | 15/18 | 5 | NM_203499.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250586Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135486
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461560Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727060
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2022 | The c.1897A>G (p.M633V) alteration is located in exon 16 (coding exon 14) of the DDX42 gene. This alteration results from a A to G substitution at nucleotide position 1897, causing the methionine (M) at amino acid position 633 to be replaced by a valine (V). 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