Gene | Nucleotide change | Effect on protein | NCBI SNP | Clinical significance1 | Case n=30 |
---|---|---|---|---|---|
BRCA1 | c.2311T>C | L771L | rs16940 | No | 3 |
c.3113A>G | E1038G | rs16941 | No | 2 | |
c.4308T>C | S1436S | rs1060915 | No | 4 | |
c.4675+1G>A | INV15+1 | rs80358044 | Yes | 1 | |
c.4837A>G | S1613G | rs1799966 | No | 1 | |
BRCA2 | c.-41A>G | 5'UTL | - | Unkown | 1 |
c.-26G>A | 5'UTL | rs1799943 | No | 20 | |
c.658delGT | V220 (223stop) | rs80359604 | Yes | 1 | |
c.1114A>C | N372H | rs144848 | No | 1 | |
c.3396A>G | K1132K | rs1801406 | No | 10 | |
c.3807T>C | V1269V | rs543304 | No | 2 | |
c.4258G>T | D1420Y | rs28897727 | No | 2 | |
c.4563A>G | L1521L | rs206075 | No | 2 | |
c.5244delC | S1748 (1748stop) | - | Yes | 1 | |
c.5744C>T | T1915M | rs4987117 | minor | 2 | |
c.7242A>G | S2414S | rs1799955 | No | 4 | |
c.7316delG | G2439 (2468stop) | - | Yes | 1 |