2-39190482-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001346911.1(CDKL4):c.475G>A(p.Asp159Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,614,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001346911.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDKL4 | NM_001346911.1 | c.475G>A | p.Asp159Asn | missense_variant | Exon 5 of 9 | NP_001333840.1 | ||
CDKL4 | NM_001397900.1 | c.475G>A | p.Asp159Asn | missense_variant | Exon 6 of 10 | NP_001384829.1 | ||
CDKL4 | NM_001009565.2 | c.475G>A | p.Asp159Asn | missense_variant | Exon 5 of 8 | NP_001009565.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251436Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135890
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461870Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 727244
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>A (p.D159N) alteration is located in exon 5 (coding exon 5) of the CDKL4 gene. This alteration results from a G to A substitution at nucleotide position 475, causing the aspartic acid (D) at amino acid position 159 to be replaced by an asparagine (N). 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