4-24576619-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001358.3(DHX15):c.131G>A(p.Arg44His) variant causes a missense change. The variant allele was found at a frequency of 0.0000161 in 1,613,832 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 (★).
Frequency
Consequence
NM_001358.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DHX15 | NM_001358.3 | c.131G>A | p.Arg44His | missense_variant | Exon 2 of 14 | ENST00000336812.5 | NP_001349.2 | |
DHX15 | XM_047449698.1 | c.131G>A | p.Arg44His | missense_variant | Exon 2 of 11 | XP_047305654.1 | ||
DHX15 | XM_047449699.1 | c.131G>A | p.Arg44His | missense_variant | Exon 2 of 11 | XP_047305655.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHX15 | ENST00000336812.5 | c.131G>A | p.Arg44His | missense_variant | Exon 2 of 14 | 1 | NM_001358.3 | ENSP00000336741.4 | ||
DHX15 | ENST00000511553.5 | n.382G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 4 | |||||
DHX15 | ENST00000513092.1 | n.498G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251146Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135738
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461664Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727134
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.131G>A (p.R44H) alteration is located in exon 2 (coding exon 2) of the DHX15 gene. This alteration results from a G to A substitution at nucleotide position 131, causing the arginine (R) at amino acid position 44 to be replaced by a histidine (H). 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