NM_020839.4:c.280T>G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_020839.4(WDR48):c.280T>G(p.Ser94Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00406 in 1,613,670 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_020839.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR48 | NM_020839.4 | c.280T>G | p.Ser94Ala | missense_variant | Exon 4 of 19 | ENST00000302313.10 | NP_065890.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00269 AC: 409AN: 152236Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00305 AC: 766AN: 250896Hom.: 2 AF XY: 0.00287 AC XY: 389AN XY: 135628
GnomAD4 exome AF: 0.00421 AC: 6146AN: 1461316Hom.: 14 Cov.: 32 AF XY: 0.00410 AC XY: 2979AN XY: 726940
GnomAD4 genome AF: 0.00268 AC: 409AN: 152354Hom.: 1 Cov.: 32 AF XY: 0.00236 AC XY: 176AN XY: 74508
ClinVar
Submissions by phenotype
not provided Uncertain:2
- -
- -
Hereditary spastic paraplegia Uncertain:1
- -
WDR48-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at