Are there any variants that you would eliminate from further consideration based
ID: 167082 • Letter: A
Question
Are there any variants that you would eliminate from further consideration based on the NGS sequencing parameters and why?
Which of the variants are clinically significant for lung adenocarcinoma and what is the effect of these variants?
For the KRAS variants listed what would the position be in HG38? Why are the positions different between the 2 builds?
Sample Chromosome Position(hg19) ReferenceBase AlternateBase DepthOfCoverage PercentVariant AA change Gene Name # of times detected HC 1 115256530 G T 12771 0.129590478 p.Q61K NRAS 1655 HC 12 25398281 C T 16321 0.15654678 p.G13D KRAS 2555 HC 12 25398284 C T 16313 0.087966652 p.G12D KRAS 1435 HC 15 90631830 G A 8312 0.013715111 IDH2 114 HC 3 178936091 G A 34625 0.085545126 p.E545K PIK3CA 2962 HC 3 178952085 A G 40806 0.173185316 p.H1047R PIK3CA 7067 HC 4 1807894 G A 4241 0.996227305 FGFR3 4225 HC 4 55141055 A G 31553 0.997718125 p.P567P PDGFRA 31481 HC 4 55599321 A T 11789 0.106200696 p.D816V KIT 1252 HC 7 55241707 G A 12291 0.27361484 p.G719S EGFR 3363 HC 7 55249001 G T 36209 0.025325195 EGFR 917 HC 7 55249063 G A 36786 0.1548687 p.Q787Q EGFR 5697 HC 7 55249071 C T 36786 0.01130865 p.T790M EGFR 416 HC 7 55259515 T G 44515 0.028305066 p.L858R EGFR 1260 HC 7 140453136 A T 17520 0.101997717 p.V600E BRAF 1787 HC 9 133738370 A G 39258 0.10451373 p.Y257C ABL1 4103Explanation / Answer
Next gene sequencing requires identifying the possible mutations. The given variant # of times detection does not need for further consideration. That will offer only how much common the mutation is.
For lung adenocarcinoma KRAS, EGFR, and BRAF will consider.
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