chrX-49075573-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001029896.2(WDR45):c.697C>A(p.Arg233=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,098,226 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001029896.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR45 | NM_001029896.2 | c.697C>A | p.Arg233= | synonymous_variant | 8/11 | ENST00000376372.9 | |
WDR45 | NM_007075.4 | c.700C>A | p.Arg234= | synonymous_variant | 9/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR45 | ENST00000376372.9 | c.697C>A | p.Arg233= | synonymous_variant | 8/11 | 1 | NM_001029896.2 | P4 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183324Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67778
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1098226Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 363582
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at