8-29071944-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015254.4(KIF13B):c.4894C>T(p.Arg1632Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,380,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015254.4 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 | UniProt |
---|---|---|---|---|---|---|---|
KIF13B | NM_015254.4 | c.4894C>T | p.Arg1632Trp | missense_variant | 39/40 | ENST00000524189.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF13B | ENST00000524189.6 | c.4894C>T | p.Arg1632Trp | missense_variant | 39/40 | 1 | NM_015254.4 | P1 | |
KIF13B | ENST00000523130.1 | c.670C>T | p.Arg224Trp | missense_variant | 4/5 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151434Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000244 AC: 3AN: 1229394Hom.: 0 Cov.: 32 AF XY: 0.00000333 AC XY: 2AN XY: 600768
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151434Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73984
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 17, 2023 | The c.4894C>T (p.R1632W) alteration is located in exon 39 (coding exon 39) of the KIF13B gene. This alteration results from a C to T substitution at nucleotide position 4894, causing the arginine (R) at amino acid position 1632 to be replaced by a tryptophan (W). 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