10-89710011-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001284259.2(KIF20B):c.436C>T(p.Arg146Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00014 in 1,611,262 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001284259.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIF20B | ENST00000371728.8 | c.436C>T | p.Arg146Cys | missense_variant | Exon 5 of 33 | 1 | NM_001284259.2 | ENSP00000360793.3 | ||
KIF20B | ENST00000260753.8 | c.436C>T | p.Arg146Cys | missense_variant | Exon 5 of 33 | 1 | ENSP00000260753.4 | |||
KIF20B | ENST00000447580.1 | c.436C>T | p.Arg146Cys | missense_variant | Exon 5 of 6 | 5 | ENSP00000390946.1 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152024Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249594Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 134912
GnomAD4 exome AF: 0.000145 AC: 212AN: 1459238Hom.: 1 Cov.: 30 AF XY: 0.000135 AC XY: 98AN XY: 725958
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152024Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74244
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.436C>T (p.R146C) alteration is located in exon 5 (coding exon 4) of the KIF20B gene. This alteration results from a C to T substitution at nucleotide position 436, causing the arginine (R) at amino acid position 146 to be replaced by a cysteine (C). 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