rs144672912
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018669.6(WDR4):c.1218G>T(p.Gly406Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,752 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. G406G) has been classified as Likely benign.
Frequency
Consequence
NM_018669.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR4 | ENST00000398208.3 | c.1218G>T | p.Gly406Gly | synonymous_variant | Exon 11 of 11 | 1 | NM_018669.6 | ENSP00000381266.2 | ||
WDR4 | ENST00000330317.6 | c.1218G>T | p.Gly406Gly | synonymous_variant | Exon 11 of 12 | 1 | ENSP00000328671.2 | |||
WDR4 | ENST00000476326.5 | n.1133G>T | non_coding_transcript_exon_variant | Exon 11 of 11 | 1 | |||||
WDR4 | ENST00000492742.5 | n.1361G>T | non_coding_transcript_exon_variant | Exon 11 of 11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251222Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135796
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461752Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727186
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at