chrX-48600589-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001347217.2(WDR13):āc.794G>Cā(p.Cys265Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000579 in 1,209,564 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 22 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 -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000328 AC: 37AN: 112673Hom.: 0 Cov.: 25 AF XY: 0.000373 AC XY: 13AN XY: 34831
GnomAD3 exomes AF: 0.0000391 AC: 7AN: 178981Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 63785
GnomAD4 exome AF: 0.0000301 AC: 33AN: 1096891Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 9AN XY: 362323
GnomAD4 genome AF: 0.000328 AC: 37AN: 112673Hom.: 0 Cov.: 25 AF XY: 0.000373 AC XY: 13AN XY: 34831
ClinVar
Submissions by phenotype
not provided Uncertain:2
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not specified Uncertain:1
The c.794G>C (p.C265S) alteration is located in exon 5 (coding exon 5) of the WDR13 gene. This alteration results from a G to C substitution at nucleotide position 794, causing the cysteine (C) at amino acid position 265 to be replaced by a serine (S). 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