rs373067235
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020162.4(DHX33):c.1646G>T(p.Arg549Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000821 in 1,461,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R549C) has been classified as Uncertain significance.
Frequency
Consequence
NM_020162.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DHX33 | NM_020162.4 | c.1646G>T | p.Arg549Leu | missense_variant | Exon 10 of 12 | ENST00000225296.8 | NP_064547.2 | |
DHX33 | NM_001199699.2 | c.1127G>T | p.Arg376Leu | missense_variant | Exon 9 of 11 | NP_001186628.1 | ||
DHX33 | XM_017024877.2 | c.362G>T | p.Arg121Leu | missense_variant | Exon 6 of 8 | XP_016880366.1 | ||
DHX33 | XM_047436418.1 | c.1518G>T | p.Pro506Pro | synonymous_variant | Exon 9 of 9 | XP_047292374.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251492Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135922
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727242
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at