1-20664750-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000400463.8(KIF17):c.2921C>T(p.Ser974Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000292 in 1,612,016 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000400463.8 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF17 | NM_001122819.3 | c.2921C>T | p.Ser974Leu | missense_variant | 15/15 | ENST00000400463.8 | NP_001116291.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIF17 | ENST00000400463.8 | c.2921C>T | p.Ser974Leu | missense_variant | 15/15 | 1 | NM_001122819.3 | ENSP00000383311 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249326Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134860
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1459702Hom.: 1 Cov.: 37 AF XY: 0.0000386 AC XY: 28AN XY: 726134
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152314Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 25, 2023 | The c.2924C>T (p.S975L) alteration is located in exon 15 (coding exon 15) of the KIF17 gene. This alteration results from a C to T substitution at nucleotide position 2924, causing the serine (S) at amino acid position 975 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