16-650060-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145294.5(WDR90):c.172C>T(p.Pro58Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,612,848 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145294.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152272Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249170Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135280
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460576Hom.: 0 Cov.: 33 AF XY: 0.0000179 AC XY: 13AN XY: 726598
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.172C>T (p.P58S) alteration is located in exon 3 (coding exon 3) of the WDR90 gene. This alteration results from a C to T substitution at nucleotide position 172, causing the proline (P) at amino acid position 58 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at