22-46691633-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_022766.6(CERK):c.1271G>A(p.Arg424Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,613,846 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_022766.6 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 |
---|---|---|---|---|---|---|---|---|
CERK | NM_022766.6 | c.1271G>A | p.Arg424Gln | missense_variant | Exon 11 of 13 | ENST00000216264.13 | NP_073603.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CERK | ENST00000216264.13 | c.1271G>A | p.Arg424Gln | missense_variant | Exon 11 of 13 | 1 | NM_022766.6 | ENSP00000216264.8 | ||
CERK | ENST00000443629.5 | n.*649G>A | non_coding_transcript_exon_variant | Exon 10 of 12 | 1 | ENSP00000400859.1 | ||||
CERK | ENST00000443629.5 | n.*649G>A | 3_prime_UTR_variant | Exon 10 of 12 | 1 | ENSP00000400859.1 | ||||
CERK | ENST00000471929.1 | n.360G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251050Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135826
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461702Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727146
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1271G>A (p.R424Q) alteration is located in exon 11 (coding exon 11) of the CERK gene. This alteration results from a G to A substitution at nucleotide position 1271, causing the arginine (R) at amino acid position 424 to be replaced by a glutamine (Q). 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