chr11-62835487-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001369450.1(WDR74):c.562G>T(p.Asp188Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,692 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 Uncertain significance (★).
Frequency
Consequence
NM_001369450.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR74 | NM_001369450.1 | c.562G>T | p.Asp188Tyr | missense_variant | Exon 6 of 11 | ENST00000278856.9 | NP_001356379.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249226Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135202
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461692Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727130
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.562G>T (p.D188Y) alteration is located in exon 7 (coding exon 6) of the WDR74 gene. This alteration results from a G to T substitution at nucleotide position 562, causing the aspartic acid (D) at amino acid position 188 to be replaced by a tyrosine (Y). 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