9-34256407-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_194313.4(KIF24):c.3200C>T(p.Pro1067Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000229 in 1,613,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_194313.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF24 | NM_194313.4 | c.3200C>T | p.Pro1067Leu | missense_variant | 11/13 | ENST00000402558.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF24 | ENST00000402558.7 | c.3200C>T | p.Pro1067Leu | missense_variant | 11/13 | 5 | NM_194313.4 | P1 | |
KIF24 | ENST00000379174.7 | c.2798C>T | p.Pro933Leu | missense_variant | 7/9 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249512Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134848
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461634Hom.: 0 Cov.: 36 AF XY: 0.0000248 AC XY: 18AN XY: 727096
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2023 | The c.3200C>T (p.P1067L) alteration is located in exon 11 (coding exon 10) of the KIF24 gene. This alteration results from a C to T substitution at nucleotide position 3200, causing the proline (P) at amino acid position 1067 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at