13-41065203-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007187.5(WBP4):āc.178A>Gā(p.Lys60Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,232 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 (ā ).
Frequency
Consequence
NM_007187.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251138Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135748
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461352Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726944
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74162
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.178A>G (p.K60E) alteration is located in exon 4 (coding exon 4) of the WBP4 gene. This alteration results from a A to G substitution at nucleotide position 178, causing the lysine (K) at amino acid position 60 to be replaced by a glutamic acid (E). 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