NM_018665.3:c.1873A>G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018665.3(DDX43):āc.1873A>Gā(p.Lys625Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.539 in 1,561,086 control chromosomes in the GnomAD database, including 232,633 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_018665.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.486 AC: 73575AN: 151388Hom.: 18481 Cov.: 32
GnomAD3 exomes AF: 0.516 AC: 128864AN: 249836Hom.: 34056 AF XY: 0.527 AC XY: 71241AN XY: 135092
GnomAD4 exome AF: 0.545 AC: 768200AN: 1409578Hom.: 214156 Cov.: 29 AF XY: 0.548 AC XY: 385487AN XY: 703666
GnomAD4 genome AF: 0.486 AC: 73596AN: 151508Hom.: 18477 Cov.: 32 AF XY: 0.490 AC XY: 36232AN XY: 73990
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at