Table 2.
Sr. no | Gene | NM:c.DNA | Protein | Nature (ClinVar) | Nature (In silico analysis) | No. patients |
---|---|---|---|---|---|---|
1 | BRCA1 | NM_007294.4:c.5467G>T | p.Ala1823Ser | Pathogenic | DC | 7 |
2 | NM_007294.4:c.5158A>G | p.Thr1720Ala | Benign | Non-DC | 15 | |
3 | NM_007294.4:c.5117G>C | p.Gly1706Ala | Benign | Non-DC | 9 | |
4 | NM_007294.4:c.5044G>A | p.Glu1682Lys | Benign | Non-DC | 9 | |
5 | NM_007294.4:c.5024C>T | p.Thr1675Ile | Benign | Non-DC | 11 | |
6 | NM_007294.4:c.4985T>C | p.Phe1662Ser | Benign | Non-DC | 10 | |
7 | NM_007294.4:c.4956G>A | p.Met1652Ile | Benign | Non-DC | 14 | |
8 | NM_007294.4:c.4955T>C | p.Met1652Thr | Benign | Non-DC | 19 | |
9 | NM_007294.4:c.4913A>T | p.Glu1638Val | Benign | Non-DC | 14 | |
10 | NM_007294.4:c.4910C>T | p.Pro1637Leu | Benign | Non-DC | 11 | |
11 | NM_007294.4:c.4840C>T | p.Pro1614Ser | Benign | Non-DC | 4 | |
12 | NM_007294.4:c.4837A>G | p.Ser1613Gly | Benign | Non-DC | 12 | |
13 | NM_007294.4:c.4816A>G | p.Lys1606Glu | Benign | Non-DC | 14 | |
14 | NM_007294.4:c.4729T>C | p.Ser1577Pro | Benign | Non-DC | 12 | |
15 | NM_007294.4:c.4691T>C | p.Leu1564Pro | Benign | Non-DC | 17 | |
16 | NM_007294.4:c.4682C>T | p.Thr1561Ile | Benign | Non-DC | 5 | |
1 | BRCA2 | NM_000059.4:c.275_276insCCAT | p.Gln92fs | Pathogenic | DC | 7 |
2 | NM_000059.4:c.1662T>G | p.Cys554Trp | Benign | Non-DC | 18 | |
3 | NM_000059.4:c.1744A>C | p.Thr582Pro | Benign | Non-DC | 21 | |
4 | NM_000059.4:c.1786G>C | p.Asp596His | Benign | Non-DC | 12 | |
5 | NM_000059.4:c.1792A>G | p.Thr598Ala | Benign | Non-DC | 13 | |
6 | NM_000059.4:c.1796C>T | p.Ser599Phe | Benign | Non-DC | 11 | |
7 | NM_000059.4:c.1798T>C | p.Tyr600His | Benign | Non-DC | 9 | |
8 | NM_000059.4:c.2350A>G | p.Met784Val | Benign | Non-DC | 17 |
DC = Disease causing.