chr9-120389277-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018249.6(CDK5RAP2):āc.5641G>Cā(p.Ala1881Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,612,358 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018249.6 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 | UniProt |
---|---|---|---|---|---|---|---|
CDK5RAP2 | NM_018249.6 | c.5641G>C | p.Ala1881Pro | missense_variant | 38/38 | ENST00000349780.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK5RAP2 | ENST00000349780.9 | c.5641G>C | p.Ala1881Pro | missense_variant | 38/38 | 1 | NM_018249.6 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248314Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134098
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460394Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 726310
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74182
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 04, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at