1-20682787-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The ENST00000400463.8(KIF17):āc.2329C>Gā(p.Arg777Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,434 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R777H) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000400463.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF17 | NM_001122819.3 | c.2329C>G | p.Arg777Gly | missense_variant | 11/15 | ENST00000400463.8 | NP_001116291.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIF17 | ENST00000400463.8 | c.2329C>G | p.Arg777Gly | missense_variant | 11/15 | 1 | NM_001122819.3 | ENSP00000383311 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460434Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726592
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 14, 2021 | The c.2329C>G (p.R777G) alteration is located in exon 11 (coding exon 11) of the KIF17 gene. This alteration results from a C to G substitution at nucleotide position 2329, causing the arginine (R) at amino acid position 777 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
Publications
No publications associated with this variant yet.