Table 1 Loss-of-function variants in familial ovarian cancer patients from Bashkortostan
Gene | Variant | Exon | Protein change | Zygo-sity | Type of variant | ClinVar |
|---|---|---|---|---|---|---|
BRCA1 | c.181T>G | 4/23 | p.Cys61Gly | Het | missense | pathogenic |
BRCA1 | c.3143delG | 10/23 | p.Gly1048ValfsTer14 | Het | frameshift | pathogenic |
BRCA1 | c.3143delG | 10/23 | p.Gly1048ValfsTer14 | Het | frameshift | pathogenic |
BRCA1 | c.3700_3704 delGTAAA | 10/23 | p.Val1234GlnfsTer8 | Het | frameshift | pathogenic |
BRCA1 | c.4035delA | 10/23 | p.Glu1346LysfsTer20 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA1 | c.5266dupC | 19/23 | p.Gln1756ProfsTer74 | Het | frameshift | pathogenic |
BRCA2 | c.3751dupA | 11/27 | p.Thr1251AsnfsTer14 | Het | frameshift | pathogenic |
CHEK2 | c.1100delC | 11/15 | p.Thr367MetfsTer15 | Het | frameshift | pathogenic |
MSH6 | c.1299T >G | 4/10 | p.Tyr433Ter | Het | stop gained | pathogenic |
NBN | c.429G >A | 4/16 | p.Trp143Ter | Het | stop gained | pathogenic |