rs77828651
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_014875.3(KIF14):c.1087G>A(p.Val363Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00363 in 1,611,654 control chromosomes in the GnomAD database, including 18 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 Likely benign (★★).
Frequency
Consequence
NM_014875.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF14 | NM_014875.3 | c.1087G>A | p.Val363Ile | missense_variant | 2/30 | ENST00000367350.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF14 | ENST00000367350.5 | c.1087G>A | p.Val363Ile | missense_variant | 2/30 | 2 | NM_014875.3 | P1 | |
KIF14 | ENST00000614960.4 | c.1087G>A | p.Val363Ile | missense_variant | 1/29 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00252 AC: 383AN: 152242Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00295 AC: 738AN: 250560Hom.: 3 AF XY: 0.00318 AC XY: 431AN XY: 135492
GnomAD4 exome AF: 0.00375 AC: 5468AN: 1459294Hom.: 17 Cov.: 32 AF XY: 0.00373 AC XY: 2709AN XY: 725634
GnomAD4 genome AF: 0.00251 AC: 383AN: 152360Hom.: 1 Cov.: 33 AF XY: 0.00258 AC XY: 192AN XY: 74508
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2024 | KIF14: BP4, BS2 - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Sep 11, 2020 | - - |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome;C4693572:Microcephaly 20, primary, autosomal recessive Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Sep 02, 2021 | - - |
KIF14-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 01, 2019 | 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