16-72096219-AGGTTGGT-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014003.4(DHX38):c.66_72delTGGTGGT(p.Gly23LeufsTer33) variant causes a frameshift 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_014003.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHX38 | ENST00000268482.8 | c.66_72delTGGTGGT | p.Gly23LeufsTer33 | frameshift_variant | Exon 2 of 27 | 1 | NM_014003.4 | ENSP00000268482.3 | ||
DHX38 | ENST00000566794.5 | c.66_72delTGGTGGT | p.Gly23LeufsTer33 | frameshift_variant | Exon 2 of 3 | 4 | ENSP00000455939.1 | |||
DHX38 | ENST00000566489.1 | c.66_72delTGGTGGT | p.Gly23LeufsTer33 | frameshift_variant | Exon 3 of 4 | 4 | ENSP00000457887.1 | |||
DHX38 | ENST00000579387.5 | n.66_72delTGGTGGT | non_coding_transcript_exon_variant | Exon 2 of 12 | 5 | ENSP00000462149.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change creates a premature translational stop signal (p.Gly23Leufs*33) in the DHX38 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DHX38 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DHX38-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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.