9-114092438-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001388308.1(KIF12):c.1711T>A(p.Trp571Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,416 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF12 | NM_001388308.1 | c.1711T>A | p.Trp571Arg | missense_variant | Exon 18 of 19 | ENST00000640217.2 | NP_001375237.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIF12 | ENST00000640217.2 | c.1711T>A | p.Trp571Arg | missense_variant | Exon 18 of 19 | 5 | NM_001388308.1 | ENSP00000491702.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250966Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135656
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461416Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727010
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1297T>A (p.W433R) alteration is located in exon 15 (coding exon 13) of the KIF12 gene. This alteration results from a T to A substitution at nucleotide position 1297, causing the tryptophan (W) at amino acid position 433 to be replaced by an arginine (R). 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