rs75041531
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_133264.5(WIPF2):c.-70+17407A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00775 in 152,104 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0078 ( 17 hom., cov: 30)
Consequence
WIPF2
NM_133264.5 intron
NM_133264.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.205
Genes affected
WIPF2 (HGNC:30923): (WAS/WASL interacting protein family member 2) This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00775 (1179/152104) while in subpopulation AFR AF= 0.0268 (1111/41480). AF 95% confidence interval is 0.0255. There are 17 homozygotes in gnomad4. There are 558 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 17 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WIPF2 | NM_133264.5 | c.-70+17407A>C | intron_variant | ENST00000323571.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WIPF2 | ENST00000323571.9 | c.-70+17407A>C | intron_variant | 1 | NM_133264.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00775 AC: 1178AN: 151986Hom.: 17 Cov.: 30
GnomAD3 genomes
?
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1178
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30
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00775 AC: 1179AN: 152104Hom.: 17 Cov.: 30 AF XY: 0.00750 AC XY: 558AN XY: 74370
GnomAD4 genome
?
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1179
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152104
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30
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558
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74370
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6
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at