rs201917309
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001163673.2(WDR81):āc.51C>Gā(p.Ser17Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000322 in 1,551,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/12 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S17S) has been classified as Likely benign.
Frequency
Consequence
NM_001163673.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR81 | ENST00000446363 | c.-397C>G | 5_prime_UTR_variant | Exon 1 of 9 | 1 | ENSP00000401560.1 | ||||
WDR81 | ENST00000437219.6 | c.51C>G | p.Ser17Arg | missense_variant | Exon 1 of 10 | 2 | ENSP00000391074.2 | |||
WDR81 | ENST00000455636.5 | c.51C>G | p.Ser17Arg | missense_variant | Exon 1 of 4 | 3 | ENSP00000395226.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152278Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000639 AC: 1AN: 156536Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82972
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1399314Hom.: 0 Cov.: 30 AF XY: 0.00000290 AC XY: 2AN XY: 690150
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at