12-96298932-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002595.5(CDK17):c.652G>C(p.Val218Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002595.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDK17 | NM_002595.5 | c.652G>C | p.Val218Leu | missense_variant | Exon 7 of 17 | ENST00000261211.8 | NP_002586.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDK17 | ENST00000261211.8 | c.652G>C | p.Val218Leu | missense_variant | Exon 7 of 17 | 1 | NM_002595.5 | ENSP00000261211.3 | ||
CDK17 | ENST00000543119.6 | c.652G>C | p.Val218Leu | missense_variant | Exon 7 of 16 | 2 | ENSP00000444459.2 | |||
CDK17 | ENST00000542666.5 | c.493G>C | p.Val165Leu | missense_variant | Exon 6 of 15 | 2 | ENSP00000442926.1 | |||
CDK17 | ENST00000553042.1 | n.194G>C | non_coding_transcript_exon_variant | Exon 3 of 7 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.652G>C (p.V218L) alteration is located in exon 7 (coding exon 6) of the CDK17 gene. This alteration results from a G to C substitution at nucleotide position 652, causing the valine (V) at amino acid position 218 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.