5-168431457-TCTGGCTGGCTGGCTGGCTGGCTGGCTGG-TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_015238.3(WWC1):c.2280+45_2280+60dupGCTGGCTGGCTGGCTG variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000010 ( 0 hom. )
Consequence
WWC1
NM_015238.3 intron
NM_015238.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.765
Genes affected
WWC1 (HGNC:29435): (WW and C2 domain containing 1) The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 148354Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000103 AC: 13AN: 1266096Hom.: 0 Cov.: 0 AF XY: 0.0000111 AC XY: 7AN XY: 628358
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GnomAD4 genome AF: 0.0000135 AC: 2AN: 148354Hom.: 0 Cov.: 0 AF XY: 0.0000139 AC XY: 1AN XY: 72076
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at