rs369953265
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024100.4(WDR18):āc.448C>Gā(p.Leu150Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000275 in 1,456,206 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L150F) has been classified as Uncertain significance.
Frequency
Consequence
NM_024100.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR18 | NM_024100.4 | c.448C>G | p.Leu150Val | missense_variant | Exon 3 of 10 | ENST00000585809.6 | NP_077005.2 | |
WDR18 | NM_001372085.1 | c.448C>G | p.Leu150Val | missense_variant | Exon 5 of 12 | NP_001359014.1 | ||
WDR18 | NM_001372086.1 | c.217C>G | p.Leu73Val | missense_variant | Exon 6 of 13 | NP_001359015.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245082Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132844
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1456206Hom.: 0 Cov.: 32 AF XY: 0.00000414 AC XY: 3AN XY: 724186
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at