Table 2 Details of seven predicted missense variants which were validated by Sanger sequencing
Gene (NCBI Ref Seq) | Mutation | Tumour ID | Functions, pathways | SIFT / MT / PolyPhen-2 | CADDa | z-Scoreb | %ExAC_RVISc | TCGA / COSMIC | gnomAD | final assessment patho-genicity |
|---|---|---|---|---|---|---|---|---|---|---|
ABI3BP (NM_015429.3) | c.2036A > T; p.K679 M | T71 | prevention of tumorigenesis, proliferation of replicative senescence | D / DC / PD | 24.6 | −0.39 | 89.49 | no report | no report | likely pathogenic |
CALD1 (NM_033140.3) | c.332G > A; p.R111Q | T69 | potent repressor of cancer cell invasion; Schwann cell migration | D / P / N/A | 26.2 | 0.24 | 62.76 | no report | 2.481e-5 | VUS |
CATSPERB (NM_024764.2) | c.2309C > A; p.P770H | T71 | spermatogenesis, cell differentiation, multicellular organism development | D / DC / PD | 24.6 | 0.93 | 4.00 | no report | no report | likely pathogenic |
CCBP2 (NM_001296.4) | c.184A > T; p.S62C | T72 | G-protein coupled receptor signaling pathway | T / P / B | 0.006 | −0.32 | 53.24 | no report | no report | likely benign |
COL8A1 NM_020351.3) | c.373G > A; p.E125K | T71 | migration and proliferation of vascular smooth muscle cells | T / DC / B | 13.1 | 0.59 | 10,36 | no report | no report | VUS |
DNAI1 (NM_012144.2) | c.1156G > A; p.V386I | T71 | epithelial cilium movement, cell projection organization | T / P / B | 11.3 | −0.22 | 68.31 | no report / 1 reportd | 2.832e-5 | likely benign |
VGLL2 (NM_182645.2) | c.132C > A; p.S44R | T70 | muscle differentiation and development of skeletal muscles | T / DC / PD | 22.4 | 1.47 | 67.74 | no report | no report | VUS |