rs11570829
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_004196.7(CDKL1):c.364-755C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00158 in 1,356,348 control chromosomes in the GnomAD database, including 30 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0069 ( 21 hom., cov: 32)
Exomes 𝑓: 0.00091 ( 9 hom. )
Consequence
CDKL1
NM_004196.7 intron
NM_004196.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.40
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00693 (1054/152144) while in subpopulation AFR AF= 0.0242 (1005/41480). AF 95% confidence interval is 0.023. There are 21 homozygotes in gnomad4. There are 500 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 21 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDKL1 | NM_004196.7 | c.364-755C>T | intron_variant | ENST00000395834.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDKL1 | ENST00000395834.6 | c.364-755C>T | intron_variant | 1 | NM_004196.7 | P1 | |||
CDKL1 | ENST00000216378.2 | c.367-755C>T | intron_variant | 1 | |||||
CDKL1 | ENST00000356146.5 | n.2308C>T | non_coding_transcript_exon_variant | 16/20 | 1 | ||||
CDKL1 | ENST00000528197.5 | n.422-755C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00693 AC: 1053AN: 152026Hom.: 21 Cov.: 32
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GnomAD3 exomes AF: 0.00150 AC: 335AN: 223716Hom.: 7 AF XY: 0.00126 AC XY: 154AN XY: 122578
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GnomAD4 exome AF: 0.000908 AC: 1094AN: 1204204Hom.: 9 Cov.: 30 AF XY: 0.000792 AC XY: 472AN XY: 595706
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GnomAD4 genome ? AF: 0.00693 AC: 1054AN: 152144Hom.: 21 Cov.: 32 AF XY: 0.00672 AC XY: 500AN XY: 74364
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at