chr15-89729737-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020212.2(WDR93):c.1178A>G(p.Tyr393Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,314 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020212.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR93 | NM_020212.2 | c.1178A>G | p.Tyr393Cys | missense_variant | 11/17 | ENST00000268130.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR93 | ENST00000268130.12 | c.1178A>G | p.Tyr393Cys | missense_variant | 11/17 | 1 | NM_020212.2 | P2 | |
WDR93 | ENST00000560294.5 | c.1178A>G | p.Tyr393Cys | missense_variant | 11/17 | 2 | A2 | ||
WDR93 | ENST00000444934.3 | n.684A>G | non_coding_transcript_exon_variant | 5/11 | 2 | ||||
WDR93 | ENST00000557825.5 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461314Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726974
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 12, 2023 | The c.1178A>G (p.Y393C) alteration is located in exon 11 (coding exon 10) of the WDR93 gene. This alteration results from a A to G substitution at nucleotide position 1178, causing the tyrosine (Y) at amino acid position 393 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
Publications
No publications associated with this variant yet.