11-9573992-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003390.4(WEE1):c.59C>T(p.Thr20Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000233 in 1,288,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T20A) has been classified as Uncertain significance.
Frequency
Consequence
NM_003390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WEE1 | NM_003390.4 | c.59C>T | p.Thr20Ile | missense_variant | 1/11 | ENST00000450114.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WEE1 | ENST00000450114.7 | c.59C>T | p.Thr20Ile | missense_variant | 1/11 | 1 | NM_003390.4 | P3 | |
WEE1 | ENST00000680141.1 | c.59C>T | p.Thr20Ile | missense_variant, NMD_transcript_variant | 1/12 |
Frequencies
GnomAD3 genomes AF: 0.00000664 AC: 1AN: 150578Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000176 AC: 2AN: 1138134Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 550944
GnomAD4 genome AF: 0.00000664 AC: 1AN: 150578Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73490
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at