chr1-205523222-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_212502.3(CDK18):c.55C>T(p.Arg19Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,613,540 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDK18 | NM_212502.3 | c.55C>T | p.Arg19Cys | missense_variant | Exon 2 of 16 | ENST00000429964.7 | NP_997667.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251400Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135868
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461372Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727030
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55C>T (p.R19C) alteration is located in exon 2 (coding exon 1) of the CDK18 gene. This alteration results from a C to T substitution at nucleotide position 55, causing the arginine (R) at amino acid position 19 to be replaced by a cysteine (C). 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