chr2-38818891-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198963.3(DHX57):c.3457G>A(p.Gly1153Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000186 in 1,614,024 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198963.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251336Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135848
GnomAD4 exome AF: 0.000192 AC: 281AN: 1461868Hom.: 1 Cov.: 32 AF XY: 0.000188 AC XY: 137AN XY: 727236
GnomAD4 genome AF: 0.000125 AC: 19AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3457G>A (p.G1153R) alteration is located in exon 19 (coding exon 18) of the DHX57 gene. This alteration results from a G to A substitution at nucleotide position 3457, causing the glycine (G) at amino acid position 1153 to be replaced by an arginine (R). 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