chr15-40625535-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144508.5(KNL1):c.5271C>G(p.Cys1757Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,607,476 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. C1757C) has been classified as Likely benign.
Frequency
Consequence
NM_144508.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KNL1 | NM_144508.5 | c.5271C>G | p.Cys1757Trp | missense_variant | 10/26 | ENST00000399668.7 | |
KNL1 | NM_170589.5 | c.5349C>G | p.Cys1783Trp | missense_variant | 11/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KNL1 | ENST00000399668.7 | c.5271C>G | p.Cys1757Trp | missense_variant | 10/26 | 1 | NM_144508.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151824Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000371 AC: 9AN: 242774Hom.: 0 AF XY: 0.0000227 AC XY: 3AN XY: 132006
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1455652Hom.: 0 Cov.: 33 AF XY: 0.00000414 AC XY: 3AN XY: 724198
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151824Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74146
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at