2-201807928-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366386.2(CDK15):c.344C>T(p.Ala115Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000713 in 1,613,892 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366386.2 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 |
---|---|---|---|---|---|---|---|---|
CDK15 | NM_001366386.2 | c.344C>T | p.Ala115Val | missense_variant | Exon 3 of 14 | ENST00000652192.3 | NP_001353315.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251208Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135746
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461774Hom.: 0 Cov.: 31 AF XY: 0.0000811 AC XY: 59AN XY: 727194
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.191C>T (p.A64V) alteration is located in exon 3 (coding exon 2) of the CDK15 gene. This alteration results from a C to T substitution at nucleotide position 191, causing the alanine (A) at amino acid position 64 to be replaced by a valine (V). 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