10-89709936-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.361C>T(p.Pro121Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000555 in 1,568,932 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.361C>T | p.Pro121Ser | missense_variant | Exon 5 of 33 | 1 | NM_001284259.2 | ENSP00000360793.3 | ||
KIF20B | ENST00000260753.8 | c.361C>T | p.Pro121Ser | missense_variant | Exon 5 of 33 | 1 | ENSP00000260753.4 | |||
KIF20B | ENST00000447580.1 | c.361C>T | p.Pro121Ser | missense_variant | Exon 5 of 6 | 5 | ENSP00000390946.1 |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151868Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000101 AC: 22AN: 218152Hom.: 0 AF XY: 0.000101 AC XY: 12AN XY: 118650
GnomAD4 exome AF: 0.0000536 AC: 76AN: 1416946Hom.: 0 Cov.: 30 AF XY: 0.0000682 AC XY: 48AN XY: 703616
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.361C>T (p.P121S) 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 361, causing the proline (P) at amino acid position 121 to be replaced by a serine (S). 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