chr9-83853800-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_017576.4(KIF27):āc.3186T>Gā(p.Ile1062Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 151,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. I1062I) has been classified as Benign.
Frequency
Consequence
NM_017576.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF27 | NM_017576.4 | c.3186T>G | p.Ile1062Met | missense_variant | 15/18 | ENST00000297814.7 | |
LOC124900638 | XR_007061620.1 | n.263+4209A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF27 | ENST00000297814.7 | c.3186T>G | p.Ile1062Met | missense_variant | 15/18 | 1 | NM_017576.4 | P1 | |
ENST00000591217.5 | n.582+4209A>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151972Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250842Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135576
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000137 AC: 2AN: 1460858Hom.: 0 Cov.: 37 AF XY: 0.00000138 AC XY: 1AN XY: 726808
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151972Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at