13-41065257-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007187.5(WBP4):āc.232G>Cā(p.Glu78Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,539,672 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000298 AC: 4AN: 134210Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000922 AC: 22AN: 238562Hom.: 0 AF XY: 0.000108 AC XY: 14AN XY: 129308
GnomAD4 exome AF: 0.0000128 AC: 18AN: 1405462Hom.: 0 Cov.: 32 AF XY: 0.0000157 AC XY: 11AN XY: 699380
GnomAD4 genome AF: 0.0000298 AC: 4AN: 134210Hom.: 0 Cov.: 30 AF XY: 0.0000469 AC XY: 3AN XY: 64006
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.232G>C (p.E78Q) alteration is located in exon 4 (coding exon 4) of the WBP4 gene. This alteration results from a G to C substitution at nucleotide position 232, causing the glutamic acid (E) at amino acid position 78 to be replaced by a glutamine (Q). 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