9-113320484-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001012361.4(WDR31):c.653G>A(p.Arg218Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000486 in 1,613,938 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001012361.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR31 | NM_001012361.4 | c.653G>A | p.Arg218Gln | missense_variant | Exon 9 of 11 | ENST00000374193.9 | NP_001012361.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000512 AC: 78AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000618 AC: 155AN: 250822Hom.: 0 AF XY: 0.000502 AC XY: 68AN XY: 135546
GnomAD4 exome AF: 0.000484 AC: 707AN: 1461586Hom.: 0 Cov.: 31 AF XY: 0.000479 AC XY: 348AN XY: 727092
GnomAD4 genome AF: 0.000512 AC: 78AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.000510 AC XY: 38AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.653G>A (p.R218Q) alteration is located in exon 9 (coding exon 7) of the WDR31 gene. This alteration results from a G to A substitution at nucleotide position 653, causing the arginine (R) at amino acid position 218 to be replaced by a glutamine (Q). 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