X-48604318-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001347217.2(WDR13):āc.1201A>Gā(p.Ile401Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000397 in 1,209,734 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 15 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001347217.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000446 AC: 5AN: 112131Hom.: 0 Cov.: 23 AF XY: 0.0000875 AC XY: 3AN XY: 34295
GnomAD3 exomes AF: 0.0000553 AC: 10AN: 180710Hom.: 0 AF XY: 0.0000306 AC XY: 2AN XY: 65318
GnomAD4 exome AF: 0.0000392 AC: 43AN: 1097549Hom.: 0 Cov.: 30 AF XY: 0.0000331 AC XY: 12AN XY: 362921
GnomAD4 genome AF: 0.0000446 AC: 5AN: 112185Hom.: 0 Cov.: 23 AF XY: 0.0000873 AC XY: 3AN XY: 34359
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1201A>G (p.I401V) alteration is located in exon 8 (coding exon 8) of the WDR13 gene. This alteration results from a A to G substitution at nucleotide position 1201, causing the isoleucine (I) at amino acid position 401 to be replaced by a valine (V). 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