1-205523593-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_212502.3(CDK18):c.241C>T(p.Arg81Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000568 in 1,585,474 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_212502.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDK18 | NM_212502.3 | c.241C>T | p.Arg81Trp | missense_variant | Exon 3 of 16 | ENST00000429964.7 | NP_997667.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 24AN: 195104Hom.: 1 AF XY: 0.000133 AC XY: 14AN XY: 105360
GnomAD4 exome AF: 0.0000426 AC: 61AN: 1433144Hom.: 1 Cov.: 33 AF XY: 0.0000493 AC XY: 35AN XY: 710300
GnomAD4 genome AF: 0.000190 AC: 29AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.241C>T (p.R81W) alteration is located in exon 3 (coding exon 2) of the CDK18 gene. This alteration results from a C to T substitution at nucleotide position 241, causing the arginine (R) at amino acid position 81 to be replaced by a tryptophan (W). 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