10-32021114-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004521.3(KIF5B):c.2112G>T(p.Gln704His) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,414 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004521.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF5B | NM_004521.3 | c.2112G>T | p.Gln704His | missense_variant | Exon 19 of 26 | ENST00000302418.5 | NP_004512.1 | |
KIF5B | XM_047425202.1 | c.2112G>T | p.Gln704His | missense_variant | Exon 19 of 25 | XP_047281158.1 | ||
KIF5B | XM_047425203.1 | c.1830G>T | p.Gln610His | missense_variant | Exon 20 of 27 | XP_047281159.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251220Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135820
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461414Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727030
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2112G>T (p.Q704H) alteration is located in exon 19 (coding exon 19) of the KIF5B gene. This alteration results from a G to T substitution at nucleotide position 2112, causing the glutamine (Q) at amino acid position 704 to be replaced by a histidine (H). 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