rs35156510
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001823.5(CKB):c.926C>T(p.Ser309Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000101 in 1,610,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001823.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CKB | NM_001823.5 | c.926C>T | p.Ser309Leu | missense_variant | 7/8 | ENST00000348956.7 | |
CKB | NM_001362531.2 | c.998C>T | p.Ser333Leu | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CKB | ENST00000348956.7 | c.926C>T | p.Ser309Leu | missense_variant | 7/8 | 1 | NM_001823.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000493 AC: 75AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000844 AC: 21AN: 248818Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 134872
GnomAD4 exome AF: 0.0000597 AC: 87AN: 1458008Hom.: 0 Cov.: 34 AF XY: 0.0000469 AC XY: 34AN XY: 724984
GnomAD4 genome ? AF: 0.000492 AC: 75AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.000443 AC XY: 33AN XY: 74498
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at