Table IIIB.

Classification of indeterminate variants: Splicing variants

DesignationRT-PCR ChangejSplicing PredictionsdSegregation AnalysiseOther DescriptionfOther VariantgVariant Scoreh
PKD1
    IVS7+3G→TN/AWD (0.56→0.21)S2NovelB1
    IVS35–14C→TN/ASSA (0.95→0.96)N/ANovelI−4
  • a Score of chemical difference between the normal and mutated residue (high score, greater difference).

  • b Score of chemical difference between orthologs (human, mouse, rat, dog, chicken, frog [fr] and fish [fi]; 0 = completed conserved). Species that match the substitution are shown.

  • c Domain containing residue: PKD, C-type lectin, REJ, GPB, ERL; N/P, no domain predicted; HC, highly conserved (>80%); NC, not conserved (<50%).

  • d Predicted splicing changes; N/P, none predicted; SSA, slightly strengthens acceptor; SWA, slightly weakens acceptor; WD, weakens donor; 0.1 to 1, weakly to strongly predicted.

  • e Segregation demonstrated in: S, sibs #; F, family # (at least two generations); N/A, samples not available.

  • f Recurrent within study (#X) or previously described as mutation (#X, ref); substitution of same residue.

  • g Other variant (mutation group, A, B, or C; indeterminate, I; or none, N); see Table I or IV for details.

  • h Composite variant score: 4 to −4 = indeterminate variant.

  • i Details of previous description as a mutation or variant of the same residue in HGMD and/or PKDB.

  • j Aberrant splicing demonstrated by RT-PCR; N/A, not available.