rs1133190
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001824.5(CKM):āc.369T>Gā(p.Pro123=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,902 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001824.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CKM | NM_001824.5 | c.369T>G | p.Pro123= | synonymous_variant | 4/8 | ENST00000221476.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CKM | ENST00000221476.4 | c.369T>G | p.Pro123= | synonymous_variant | 4/8 | 1 | NM_001824.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151902Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1451896Hom.: 0 Cov.: 64 AF XY: 0.00 AC XY: 0AN XY: 722588
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151902Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at