TABLE 3.
Rare genetic variant in known and suspected breast cancer genes
| Gene | Family | Variant (coding DNA) | Variant (protein) | Rs‐number | Co‐segregation a | Frequency b (%) |
|---|---|---|---|---|---|---|
| ATM | RF6 | c.146C>G | p.S49C | rs1800054 | 2/3 | 1.7 |
| ATM | RF7 | c.2531G>A | p.G844E | rs587781808 | 2/3 | 0.002 |
| ATM | RF10 | c.2991A>G | p.(=) | rs1203368496 | 3/3 | 0 |
| ATM | RF18 | c.584C>T | p.T195I | rs1196611507 | 2/3 | — |
| ATM | RF20 | c.146C>G | p.S49C | rs1800054 | 3/3 | 1.7 |
| BRCA2 | RF17 | c.8290G>A | p.A2764T | rs786202189 | 2/3 | — |
| CDH1 | RF21 | c.1689C>T | p.(=) | rs587780786 | 2/2 | 0.007 |
| CHEK2 | RF4 | c.1100delC | p.T367fs | rs555607708 | 3/3 | 1 |
| CHEK2 | RF8 | c.1100delC | p.T367fs | rs555607708 | 3/3 | 1 |
| CHEK2 | RF14 | c.556A>C | p.N186H | rs146198085 | 1/3 | 0.01 |
| PALB2 | RF20 | c.150A>T | p.K50N | — | 1/2 | – |
| RAD51C | RF8 | c.790G>A | p.G264S | rs147241704 | 3/3 | 0.3 |
| RAD51C | RF19 | c.790G>A | p.G264S | rs147241704 | 1/2 | 0.3 |
a
Indicates the number of siblings carrying the allele out of the total number of siblings from this family tested.
b
Highest frequency in either ESP, ExAc, gnomAD, or GoNL; — if no entry listed; Accession numbers for the transcripts and protein sequences used to describe the variants: ATM: NM_000051.3, NP_000042.3; BRCA1: NM_007294.3, NP_009225.1; BRCA2: NM_000059.3, NP_000050.2; CDH1: NM_004360.3, NP_004351.1; CHEK2: NM_007194.3, NP_009125.1; PALB2: NM_024675.3, NP_078951.2; RAD51C: NM_058216.2, NP_478123.1.