X-48599393-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_001347217.2(WDR13):āc.323A>Gā(p.His108Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00031 in 1,208,105 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 115 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001347217.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000212 AC: 24AN: 112949Hom.: 0 Cov.: 25 AF XY: 0.0000570 AC XY: 2AN XY: 35097
GnomAD3 exomes AF: 0.000165 AC: 29AN: 175425Hom.: 0 AF XY: 0.000164 AC XY: 10AN XY: 61001
GnomAD4 exome AF: 0.000321 AC: 351AN: 1095103Hom.: 0 Cov.: 31 AF XY: 0.000313 AC XY: 113AN XY: 360899
GnomAD4 genome AF: 0.000212 AC: 24AN: 113002Hom.: 0 Cov.: 25 AF XY: 0.0000569 AC XY: 2AN XY: 35160
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.323A>G (p.H108R) alteration is located in exon 3 (coding exon 3) of the WDR13 gene. This alteration results from a A to G substitution at nucleotide position 323, causing the histidine (H) at amino acid position 108 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
WDR13: PP2, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at