10-120851442-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018117.12(WDR11):c.22T>C(p.Phe8Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR11 | NM_018117.12 | c.22T>C | p.Phe8Leu | missense_variant | Exon 1 of 29 | ENST00000263461.11 | NP_060587.8 | |
WDR11 | XM_005269963.3 | c.-777T>C | 5_prime_UTR_variant | Exon 1 of 29 | XP_005270020.1 | |||
WDR11 | XR_007061973.1 | n.81T>C | non_coding_transcript_exon_variant | Exon 1 of 20 | ||||
WDR11 | XR_428707.4 | n.81T>C | non_coding_transcript_exon_variant | Exon 1 of 28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR11 | ENST00000263461.11 | c.22T>C | p.Phe8Leu | missense_variant | Exon 1 of 29 | 1 | NM_018117.12 | ENSP00000263461.5 | ||
WDR11 | ENST00000605543.5 | n.22T>C | non_coding_transcript_exon_variant | Exon 1 of 22 | 2 | ENSP00000475076.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459814Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726060
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.22T>C (p.F8L) alteration is located in exon 1 (coding exon 1) of the WDR11 gene. This alteration results from a T to C substitution at nucleotide position 22, causing the phenylalanine (F) at amino acid position 8 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at