Skip to main content
. 2024 Oct 15;16(10):5357–5370. doi: 10.62347/KJYY7691

Table 2.

Incidence and categorization of mutations detected in the BRCA1/2 genes among GC patients

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.