rs764577786
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_014875.3(KIF14):āc.4782G>Cā(p.Trp1594Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000113 in 1,613,764 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_014875.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF14 | NM_014875.3 | c.4782G>C | p.Trp1594Cys | missense_variant | 30/30 | ENST00000367350.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF14 | ENST00000367350.5 | c.4782G>C | p.Trp1594Cys | missense_variant | 30/30 | 2 | NM_014875.3 | P1 | |
KIF14 | ENST00000614960.4 | c.4782G>C | p.Trp1594Cys | missense_variant | 29/29 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000593 AC: 9AN: 151888Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000251 AC: 63AN: 251238Hom.: 1 AF XY: 0.000354 AC XY: 48AN XY: 135762
GnomAD4 exome AF: 0.000119 AC: 174AN: 1461876Hom.: 2 Cov.: 32 AF XY: 0.000188 AC XY: 137AN XY: 727240
GnomAD4 genome ? AF: 0.0000593 AC: 9AN: 151888Hom.: 1 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74178
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 04, 2016 | - - |
KIF14-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 29, 2024 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at