rs58699334
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr13-41065289-TAAAAAAAAAAAAAA-T
- chr13-41065289-TAAAAAAAAAAAAAA-TAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-41065289-TAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000379487.5(WBP4):c.262+3_262+16delAAAAAAAAAAAAAA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000245 in 81,792 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000024 ( 0 hom., cov: 25)
Consequence
WBP4
ENST00000379487.5 splice_region, intron
ENST00000379487.5 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.966
Genes affected
WBP4 (HGNC:12739): (WW domain binding protein 4) This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000245 AC: 2AN: 81792Hom.: 0 Cov.: 25
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000245 AC: 2AN: 81792Hom.: 0 Cov.: 25 AF XY: 0.0000523 AC XY: 2AN XY: 38222
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at