rs55932059
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014920.5(CILK1):c.1843G>T(p.Ala615Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014920.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CILK1 | NM_014920.5 | c.1843G>T | p.Ala615Ser | missense_variant | 14/14 | ENST00000676107.1 | NP_055735.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CILK1 | ENST00000676107.1 | c.1843G>T | p.Ala615Ser | missense_variant | 14/14 | NM_014920.5 | ENSP00000501692 | P1 | ||
CILK1 | ENST00000350082.10 | c.1864G>T | p.Ala622Ser | missense_variant | 14/14 | 1 | ENSP00000263043 | |||
CILK1 | ENST00000356971.3 | c.1843G>T | p.Ala615Ser | missense_variant | 15/15 | 2 | ENSP00000349458 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251174Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135814
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727228
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at