19-984552-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024100.4(WDR18):c.199C>T(p.Leu67Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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
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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.199C>T | p.Leu67Phe | missense_variant | Exon 1 of 10 | ENST00000585809.6 | NP_077005.2 | |
WDR18 | NM_001372085.1 | c.199C>T | p.Leu67Phe | missense_variant | Exon 3 of 12 | NP_001359014.1 | ||
WDR18 | NM_001372086.1 | c.-33C>T | 5_prime_UTR_variant | Exon 4 of 13 | NP_001359015.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1346770Hom.: 0 Cov.: 57 AF XY: 0.00 AC XY: 0AN XY: 661356
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.199C>T (p.L67F) alteration is located in exon 1 (coding exon 1) of the WDR18 gene. This alteration results from a C to T substitution at nucleotide position 199, causing the leucine (L) at amino acid position 67 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
Publications
No publications associated with this variant yet.