10-32017352-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004521.3(KIF5B):c.2552G>T(p.Arg851Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004521.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF5B | NM_004521.3 | c.2552G>T | p.Arg851Leu | missense_variant | Exon 24 of 26 | ENST00000302418.5 | NP_004512.1 | |
KIF5B | XM_047425202.1 | c.2552G>T | p.Arg851Leu | missense_variant | Exon 24 of 25 | XP_047281158.1 | ||
KIF5B | XM_047425203.1 | c.2270G>T | p.Arg757Leu | missense_variant | Exon 25 of 27 | XP_047281159.1 | ||
LOC107984219 | XR_001747415.2 | n.5354-674C>A | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2552G>T (p.R851L) alteration is located in exon 24 (coding exon 24) of the KIF5B gene. This alteration results from a G to T substitution at nucleotide position 2552, causing the arginine (R) at amino acid position 851 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
Publications
No publications associated with this variant yet.