chr4-169561898-TA-T
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Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001199397.3(NEK1):c.1081-8delT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000566 in 1,589,232 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in Lovd as Likely benign (no stars).
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 30)
Exomes 𝑓: 0.0000049 ( 0 hom. )
Consequence
NEK1
NM_001199397.3 splice_region, intron
NM_001199397.3 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.82
Genes affected
NEK1 (HGNC:7744): (NIMA related kinase 1) The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 4-169561898-TA-T is Benign according to our data. Variant chr4-169561898-TA-T is described in Lovd as [Likely_benign]. Variant chr4-169561898-TA-T is described in Lovd as [Benign].
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151036Hom.: 0 Cov.: 30
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GnomAD4 exome AF: 0.00000487 AC: 7AN: 1438196Hom.: 0 Cov.: 30 AF XY: 0.00000559 AC XY: 4AN XY: 715136
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GnomAD4 genome AF: 0.0000132 AC: 2AN: 151036Hom.: 0 Cov.: 30 AF XY: 0.0000136 AC XY: 1AN XY: 73712
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at