Table 2.

Mutations seen in DNA damage repair genes in 12 patients (ID) of our cohort and their predicted functional significance

IDGeneChromosome positiondbSNP IDFunctionAmino acid changeSIFT function predictionPolyPhen-2 function prediction
1BRCA117:41246481rs1799950Missensep.Q356R; p.Q309RDamagingProbably damaging
2BRCA117:41199716rs80356920Missense; Stop gainp.C675*; p.V700D; p.V1757D; p.V1825D; p.V1804DToleratedBenign
BRCA117:41246481rs1799950Missensep.Q356R; p.Q309RDamagingProbably damaging
3BRCA117:41222975rs1799967Missensep.M548I; p.M1673I; p.M1652I; p.M1605IToleratedBenign
BRCA213:32914755rs767567428Missensep.T2088IDamagingBenign
4BRCA213:32911295rs28897716Missensep.D935NToleratedBenign
5BRCA117:41246061rs28897677Missensep.R496H; p.R449HToleratedBenign
6BRCA117:41244429rs4986852Missensep.S993N; p.S1040NToleratedBenign
BRCA213:32972626rs11571833Stop gainp.K3326*N/AN/A
7BRCA117:41246481rs1799950Missensep.Q356R; p.Q309RDamagingProbably damaging
PALB216:23646857rs45494092Stop gainp.L337SToleratedBenign
8BRCA117:41222975rs1799967Missensep.M548I; p.M1673I; p.M1652I; p.M1605IToleratedBenign
BRCA213:32912750rs28897727Missensep.D1420YDamagingBenign
9BRCA213:32945172rs11571747Missensep.E2856AToleratedProbably damaging
10PALB216:23646857rs45494092Missensep.L337SToleratedBenign
11PALB216:23634293rs45551636Missensep.G998EDamagingProbably damaging
PALB216:23641461rs45532440Missensep.E672QToleratedBenign
12MSH22:47403319rs17217723MissenseY43CIntolerantProbably damaging