10-32017293-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_004521.3(KIF5B):c.2611G>A(p.Ala871Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,461,872 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 (★).
Frequency
Consequence
NM_004521.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIF5B | NM_004521.3 | c.2611G>A | p.Ala871Thr | missense_variant | Exon 24 of 26 | ENST00000302418.5 | NP_004512.1 | |
KIF5B | XM_047425202.1 | c.2611G>A | p.Ala871Thr | missense_variant | Exon 24 of 25 | XP_047281158.1 | ||
KIF5B | XM_047425203.1 | c.2329G>A | p.Ala777Thr | missense_variant | Exon 25 of 27 | XP_047281159.1 | ||
LOC107984219 | XR_001747415.2 | n.5354-733C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251010Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135664
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461872Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727232
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2611G>A (p.A871T) alteration is located in exon 24 (coding exon 24) of the KIF5B gene. This alteration results from a G to A substitution at nucleotide position 2611, causing the alanine (A) at amino acid position 871 to be replaced by a threonine (T). 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