20-49225123-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017895.8(DDX27):c.524G>T(p.Gly175Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.2 in 1,612,734 control chromosomes in the GnomAD database, including 33,994 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.
Frequency
Consequence
NM_017895.8 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: 0.195 AC: 29684AN: 151938Hom.: 2960 Cov.: 32
GnomAD3 exomes AF: 0.174 AC: 43867AN: 251472Hom.: 4223 AF XY: 0.171 AC XY: 23258AN XY: 135910
GnomAD4 exome AF: 0.201 AC: 293482AN: 1460678Hom.: 31033 Cov.: 32 AF XY: 0.197 AC XY: 143085AN XY: 726658
GnomAD4 genome AF: 0.195 AC: 29700AN: 152056Hom.: 2961 Cov.: 32 AF XY: 0.190 AC XY: 14150AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at