Classification | Gene | Allele | IDS | HGVS cDNA | BIC | ClinVar | GVGD prediction | Path | TN | Bilat | Family Hist | Age diag |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Pathogenic | BRCA1 | 188insAG | rs80357914 | c.69_70insAG | 2X | Â | Â | IDC&LC | No | No | No | 35 |
Pathogenic | BRCA1 | 189del11 | rs80359877 | c.70_80del | 11X | Â | Â | IDC | Yes | No | No | 29 |
Pathogenic | BRCA1 | 5210delTG | rs80357710 | c.5091_5092delTG | 2X | Â | Â | IDC | Yes | No | 1-2nd | 32 |
Pathogenic | BRCA1 | G1788D | rs80357069 | c.5363G>A | 5X | Â | Â | IDC | No | No | No | 38 |
* | BRCA1 | C1787S | rs80357065 | c.5359T>A | 5X | Â | Â | Â | Â | Â | Â | Â |
Pathogenic | BRCA2 | Q742X | rs80358494 | c.2224C>T | 2X | Â | Â | IDC | Â | No | 1-2nd | 39 |
Pathogenic | BRCA2 | E1308X | rs80358638 | c.3922G>T | 15X | Â | Â | IDC | No | No | No | 41 |
Pathogenic | BRCA2 | 6005delT | Â | c.5778delT | Not in BIC | Â | Â | IDC | No | No | No | 35 |
VUS | BRCA1 | E577Q | Â | c.1729G>A | Not in BIC | No data | Class C0 | IDC | Yes | No | 1-2nd | 49 |
VUS | BRCA2 | F266L | rs587782433 | c.796T>C | Not in BIC | 1 VUS | Class C0 | IDC | Yes | No | 1-1st | 61 |
VUS | BRCA2 | D1781N | rs183478654 | c.5341G>A | Not in BIC | 1 VUS | Class C0 | IDC&LC | Â | Â | Â | Â |
Likely Benign | BRCA1 | L1844R | rs80357323 | c.5531T>G | 3X | 2LB | Class C0 | Â | Â | Â | Â | Â |
Likely Benign/Benign | BRCA1 | R504H | rs56272539 | c.1511G>A | 19X | 2LB_1B | Class C0 | Â | Â | Â | Â | Â |
Likely Benign/Benign | BRCA1 | T826K | rs28897683 | c.2477C>A | 38X | 1 LB _3B | Class C0 | IDC | No | No | 4 1st, 2 2nd | 66 |
Likely Benign/Benign | BRCA1 | R841W | rs1800709 | c.2521C>T | 119X | 1 LB_4B | Class C15 | Â | Â | Â | Â | 44 |
Likely Benign/Benign | BRCA1 | I1275V | rs80357280 | c.3823A>G | 13X | 1 LB_2B | Class C0 | IDC | Yes | No | No | Â |