17-40264930-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_133264.5(WIPF2):c.754C>T(p.Pro252Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000496 in 1,614,120 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P252L) has been classified as Uncertain significance.
Frequency
Consequence
NM_133264.5 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: 0.0000328 AC: 5AN: 152226Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251480Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461894Hom.: 0 Cov.: 33 AF XY: 0.0000454 AC XY: 33AN XY: 727248
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152226Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.754C>T (p.P252S) alteration is located in exon 5 (coding exon 4) of the WIPF2 gene. This alteration results from a C to T substitution at nucleotide position 754, causing the proline (P) at amino acid position 252 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