17-1725446-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001163809.2(WDR81):āc.487A>Gā(p.Ser163Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000245 in 1,549,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001163809.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR81 | NM_001163809.2 | c.487A>G | p.Ser163Gly | missense_variant | 1/10 | ENST00000409644.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR81 | ENST00000409644.6 | c.487A>G | p.Ser163Gly | missense_variant | 1/10 | 1 | NM_001163809.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000643 AC: 1AN: 155562Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82654
GnomAD4 exome AF: 0.0000100 AC: 14AN: 1397114Hom.: 0 Cov.: 80 AF XY: 0.0000102 AC XY: 7AN XY: 689142
GnomAD4 genome AF: 0.000158 AC: 24AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.000188 AC XY: 14AN XY: 74388
ClinVar
Submissions by phenotype
Hydrocephalus, congenital, 3, with brain anomalies Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Sep 10, 2018 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at