NM_001347217.2:c.748C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001347217.2(WDR13):c.748C>T(p.Arg250Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000578 in 1,210,569 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001347217.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000887 AC: 1AN: 112739Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 34891
GnomAD3 exomes AF: 0.00000549 AC: 1AN: 182216Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66808
GnomAD4 exome AF: 0.00000547 AC: 6AN: 1097830Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1AN XY: 363204
GnomAD4 genome AF: 0.00000887 AC: 1AN: 112739Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 34891
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.748C>T (p.R250C) alteration is located in exon 5 (coding exon 5) of the WDR13 gene. This alteration results from a C to T substitution at nucleotide position 748, causing the arginine (R) at amino acid position 250 to be replaced by a cysteine (C). 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