14-50395759-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004196.7(CDKL1):c.110A>C(p.Glu37Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000171 in 1,461,698 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004196.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDKL1 | ENST00000395834.6 | c.110A>C | p.Glu37Ala | missense_variant | Exon 2 of 10 | 1 | NM_004196.7 | ENSP00000379176.2 | ||
CDKL1 | ENST00000216378.2 | c.113A>C | p.Glu38Ala | missense_variant | Exon 2 of 9 | 1 | ENSP00000216378.2 | |||
CDKL1 | ENST00000356146.5 | n.680A>C | non_coding_transcript_exon_variant | Exon 5 of 20 | 1 | |||||
CDKL1 | ENST00000531052.1 | n.318A>C | non_coding_transcript_exon_variant | Exon 1 of 3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251454Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135906
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461698Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 727186
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.113A>C (p.E38A) alteration is located in exon 1 (coding exon 1) of the CDKL1 gene. This alteration results from a A to C substitution at nucleotide position 113, causing the glutamic acid (E) at amino acid position 38 to be replaced by an alanine (A). 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