chr9-87967465-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001039803.3(CDK20):c.1038G>A(p.Gly346Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000882 in 1,553,716 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 Likely benign (★).
Frequency
Consequence
NM_001039803.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000931 AC: 15AN: 161176Hom.: 0 AF XY: 0.000118 AC XY: 10AN XY: 84786
GnomAD4 exome AF: 0.0000607 AC: 85AN: 1401438Hom.: 1 Cov.: 31 AF XY: 0.0000738 AC XY: 51AN XY: 691406
GnomAD4 genome AF: 0.000341 AC: 52AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74450
ClinVar
Submissions by phenotype
CDK20-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at