NM_052988.5:c.51T>G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS1
The NM_052988.5(CDK10):āc.51T>Gā(p.Arg17Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000324 in 1,612,354 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_052988.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000494 AC: 75AN: 151906Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.000601 AC: 147AN: 244612Hom.: 0 AF XY: 0.000562 AC XY: 75AN XY: 133502
GnomAD4 exome AF: 0.000307 AC: 448AN: 1460330Hom.: 1 Cov.: 31 AF XY: 0.000307 AC XY: 223AN XY: 726472
GnomAD4 genome AF: 0.000493 AC: 75AN: 152024Hom.: 1 Cov.: 34 AF XY: 0.000592 AC XY: 44AN XY: 74328
ClinVar
Submissions by phenotype
Al Kaissi syndrome Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
not provided Benign:1
CDK10: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at