19-989888-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024100.4(WDR18):c.448C>T(p.Leu150Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000168 in 1,608,446 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_024100.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR18 | NM_024100.4 | c.448C>T | p.Leu150Phe | missense_variant | Exon 3 of 10 | ENST00000585809.6 | NP_077005.2 | |
WDR18 | NM_001372085.1 | c.448C>T | p.Leu150Phe | missense_variant | Exon 5 of 12 | NP_001359014.1 | ||
WDR18 | NM_001372086.1 | c.217C>T | p.Leu73Phe | missense_variant | Exon 6 of 13 | NP_001359015.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000816 AC: 2AN: 245082Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132844
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1456206Hom.: 0 Cov.: 32 AF XY: 0.00000552 AC XY: 4AN XY: 724186
GnomAD4 genome AF: 0.000112 AC: 17AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.448C>T (p.L150F) alteration is located in exon 3 (coding exon 3) of the WDR18 gene. This alteration results from a C to T substitution at nucleotide position 448, causing the leucine (L) at amino acid position 150 to be replaced by a phenylalanine (F). 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