chr6-169572543-CAAA-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_182552.5(WDR27):c.2524-6_2524-4delTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0046 ( 4 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
WDR27
NM_182552.5 splice_region, intron
NM_182552.5 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.347
Genes affected
WDR27 (HGNC:21248): (WD repeat domain 27) This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR27 | ENST00000448612.6 | c.2524-6_2524-4delTTT | splice_region_variant, intron_variant | Intron 24 of 25 | 1 | NM_182552.5 | ENSP00000416289.1 | |||
ENSG00000285733 | ENST00000648086.1 | c.533+10290_533+10292delTTT | intron_variant | Intron 5 of 7 | ENSP00000497979.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 429AN: 92288Hom.: 4 Cov.: 0 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 28Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 4
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00465 AC: 429AN: 92270Hom.: 4 Cov.: 0 AF XY: 0.00440 AC XY: 188AN XY: 42706
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Data not reliable, filtered out with message: AS_VQSR
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at