rs727502863
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_032856.5(WDR73):āc.129T>Gā(p.Tyr43Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,383,716 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 Pathogenic (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_032856.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR73 | NM_032856.5 | c.129T>G | p.Tyr43Ter | stop_gained | 3/8 | ENST00000434634.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR73 | ENST00000434634.7 | c.129T>G | p.Tyr43Ter | stop_gained | 3/8 | 1 | NM_032856.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1383716Hom.: 0 Cov.: 28 AF XY: 0.00000147 AC XY: 1AN XY: 681382
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Galloway-Mowat syndrome 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 04, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at