13-41065216-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007187.5(WBP4):c.191A>T(p.Glu64Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000126 in 1,586,446 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007187.5 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: 0.00000675 AC: 1AN: 148058Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251170Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135768
GnomAD4 exome AF: 0.0000132 AC: 19AN: 1438388Hom.: 0 Cov.: 32 AF XY: 0.0000140 AC XY: 10AN XY: 715348
GnomAD4 genome AF: 0.00000675 AC: 1AN: 148058Hom.: 0 Cov.: 31 AF XY: 0.0000139 AC XY: 1AN XY: 72018
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.191A>T (p.E64V) alteration is located in exon 4 (coding exon 4) of the WBP4 gene. This alteration results from a A to T substitution at nucleotide position 191, causing the glutamic acid (E) at amino acid position 64 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