Table 1 Missense and splice site variants in RNASEH2A, RNASEH2B and RNASEH2C
From: Germline variation of Ribonuclease H2 genes in ovarian cancer patients
Genome variant | cDNA | Protein | rsID | Predictions | N (cases) | N (controls) |
|---|---|---|---|---|---|---|
RNASEH2A | ||||||
chr19:12917491 G > T, chr19:12917495 T > C | c.4G > T, c.8 T > C | p.D2Y, p.L3P | rs761331717, rs764685443 | likely pathogenic, variants not conserved | 0 | 1** |
chr19:12918043 G > C | c.223G > C | p.E75Q | rs753695101 | likely pathogenic, variant conserved | 1 | 0 |
chr19:12918304 G > A | c.395G > A | p.G132D | rs753110328 | likely pathogenic, variant not conserved | 1 | 0 |
chr19:12921186 T > C | c.605 T > C | p.L202S | rs7247284 | likely benign, variant not conserved | 41 | 59 (1 hom) |
chr19:12921196 T > A | c.615 T > A | p.D205E*** | rs62619782 | likely pathogenic, variant conserved | 16 | 16 |
chr19:12923921 A > G | c.662A > G | p.K221R | rs143534021 | likely benign, variant conserved | 0 | 1 |
chr19:12923974 C > T | c.715C > T | p.R239C | rs372667206 | likely pathogenic, variant not conserved | 1 | 0 |
chr19:12924260 G > A | c.880G > A | p.E294K | rs764614950 | likely pathogenic, variant conserved | 1 | 0 |
RNASEH2B | ||||||
chr13:51501610 T > A | c.132 T > A | p.C44X | rs74876702 | likely pathogenic | 1 | 0 |
chr13:51517475 A > G | c.455A > G | p.N152S | rs146451037 | likely benign, variant conserved | 1 | 1 |
chr13:51519581 G > A | c.529G > A | p.A177T | rs75184679 | likely pathogenic, variant not conserved | 0 | 4 |
chr13:51522138 A > T | c.632A > T | p.Y211F | rs779596970 | likely pathogenic, variant conserved | 1 | 0 |
chr13:51522155 T > C | c.649 T > C | p.S217P | rs778933609 | likely pathogenic, variant not conserved | 1 | 0 |
chr13:51528043 A > C | c.744A > C* | p.K248N* | rs748144224 | likely pathogenic*, variant not conserved | 1 | 0 |
chr13:51528086 A > G | c.787A > G* | p.T263A* | rs150363383 | likely pathogenic*, variant not conserved | 1 | 0 |
chr13:51530494 insA | c.827dupA* | p.N276Kfs* | rs746868812 | likely pathogenic* | 0 | 1 |
chr13:51530501 G > A | c.830G > A* | p.S277N* | rs200802557 | likely pathogenic, variant conserved* | 0 | 1 |
chr13:51530530 G > T | c.859G > T* | p.A287S* | rs144408326 | likely pathogenic, variant conserved* | 3 | 7 |
chr13:51530539 G > A | c.868G > A* | p.D290N* | rs201190805 | likely pathogenic, variant conserved* | 0 | 1 |
RNASEH2C | ||||||
chr11:65487516 C > A | c.468G > T | p.A156A | rs61736590 | splice site affected | 5 | 4 |