chr17-1725441-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001163809.2(WDR81):c.482C>T(p.Pro161Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000219 in 1,549,322 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 (★). Synonymous variant affecting the same amino acid position (i.e. P161P) has been classified as Likely benign.
Frequency
Consequence
NM_001163809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR81 | NM_001163809.2 | c.482C>T | p.Pro161Leu | missense_variant | 1/10 | ENST00000409644.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR81 | ENST00000409644.6 | c.482C>T | p.Pro161Leu | missense_variant | 1/10 | 1 | NM_001163809.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000386 AC: 6AN: 155482Hom.: 0 AF XY: 0.0000363 AC XY: 3AN XY: 82604
GnomAD4 exome AF: 0.0000236 AC: 33AN: 1397086Hom.: 0 Cov.: 78 AF XY: 0.0000218 AC XY: 15AN XY: 689130
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74384
ClinVar
Submissions by phenotype
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Institute of Human Genetics, University of Leipzig Medical Center | Jan 01, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at