9-114093264-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001388308.1(KIF12):c.1561T>G(p.Trp521Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000216 in 1,557,520 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001388308.1 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 |
---|---|---|---|---|---|---|---|
KIF12 | NM_001388308.1 | c.1561T>G | p.Trp521Gly | missense_variant | 16/19 | ENST00000640217.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF12 | ENST00000640217.2 | c.1561T>G | p.Trp521Gly | missense_variant | 16/19 | 5 | NM_001388308.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000204 AC: 31AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 21AN: 164696Hom.: 0 AF XY: 0.0000805 AC XY: 7AN XY: 86918
GnomAD4 exome AF: 0.000218 AC: 306AN: 1405270Hom.: 0 Cov.: 33 AF XY: 0.000187 AC XY: 130AN XY: 693568
GnomAD4 genome ? AF: 0.000204 AC: 31AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74450
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 27, 2022 | The c.1147T>G (p.W383G) alteration is located in exon 13 (coding exon 11) of the KIF12 gene. This alteration results from a T to G substitution at nucleotide position 1147, causing the tryptophan (W) at amino acid position 383 to be replaced by a glycine (G). 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