rs201384117
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001029896.2(WDR45):c.437-27A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000036 in 1,140,106 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 15 hemizygotes 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. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_001029896.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR45 | NM_001029896.2 | c.437-27A>T | intron_variant | ENST00000376372.9 | |||
WDR45 | NM_007075.4 | c.440-27A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR45 | ENST00000376372.9 | c.437-27A>T | intron_variant | 1 | NM_001029896.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000275 AC: 3AN: 109261Hom.: 0 Cov.: 23 AF XY: 0.0000627 AC XY: 2AN XY: 31903
GnomAD3 exomes AF: 0.0000555 AC: 9AN: 162303Hom.: 0 AF XY: 0.0000588 AC XY: 3AN XY: 51035
GnomAD4 exome AF: 0.0000369 AC: 38AN: 1030845Hom.: 0 Cov.: 25 AF XY: 0.0000424 AC XY: 13AN XY: 306383
GnomAD4 genome ? AF: 0.0000275 AC: 3AN: 109261Hom.: 0 Cov.: 23 AF XY: 0.0000627 AC XY: 2AN XY: 31903
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at