NM_018117.12:c.1303G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018117.12(WDR11):c.1303G>T(p.Ala435Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A435T) has been classified as Uncertain significance.
Frequency
Consequence
NM_018117.12 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR11 | ENST00000263461.11 | c.1303G>T | p.Ala435Ser | missense_variant | Exon 10 of 29 | 1 | NM_018117.12 | ENSP00000263461.5 | ||
WDR11 | ENST00000497136.6 | n.422G>T | non_coding_transcript_exon_variant | Exon 8 of 26 | 1 | ENSP00000474595.1 | ||||
WDR11 | ENST00000605543.5 | n.167-57G>T | intron_variant | Intron 2 of 21 | 2 | ENSP00000475076.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.