Table 2.
Variant analysis
| BRAF Mutationa | Type | Prob. | Freq. | OncoKB | Classification | Co-occurring mutations |
|---|---|---|---|---|---|---|
| c.1406G>C (p.Gly469Ala) | missense | >0.99 | 1 | oncogenic | class 2 | – |
| c.2209G>A (p.Gly737Ser) | missense | >0.99 | 1 | – | – | BRAF c.1799T>A (p.Val600Glu)a |
| c.1799T>G (p.Val600Gly) | missense | >0.99 | 2 | likely oncogenic | class 1 | – |
| c.2191C>T (p.Pro731Ser) | missense | >0.99 | 2 | – | – |
BRAF c.1798G>A (p.Val600Met)a; BRAF c.1799T>G (p.Val600Gly)a |
| c.1457_1471delATGTGAC AGCACCTA (p.Asn486_Pro490del) |
in frame | >0.99 | 1 | likely oncogenic | class 2 | – |
| c.1843G>A (p.Gly615Arg) | missense | >0.99 | 1 | – | – | – |
| c.1756G>A (p.Glu586Lys) | missense | >0.99 | 2 | likely oncogenic | – | BRAF c.1799T>A (p.Val600Glu)a |
| c.1404_1406delTGGinsAAA (p.Phe468_Gly469delinsLeuLys) | missense | 0.99 | 1 | – | – | – |
| c.1997T>A (p.Ile666Asn) | missense | 0.99 | 1 | – | – | BRAF c.1799T>A (p.Val600Glu)a |
| c.1798G>A (p.Val600Met) | missense | 0.99 | 3 | inconclusive | class 1 | – |
| c.1799T>A (p.Val600Glu) | missense | 0.99 | 116 | oncogenic | class 1 | – |
| c.1801A>G (p.Lys601Glu) | missense | 0.98 | 4 | likely oncogenic | class 2 | – |
| c.1798_1799delGTinsAG (p.Val600Arg) | missense | 0.98 | 8 | oncogenic | class 1 | – |
| c.1798_1799delGTinsAA (p.Val600Lys) | missense | 0.98 | 31 | oncogenic | class 1 | – |
| c.1808G>A (p.Arg603Gln) | missense | 0.97 | 1 | – | – | – |
| c.1790T>G (p.Leu597Arg) | missense | 0.97 | 1 | likely oncogenic | class 2 | – |
| c.95_100delGCGCCG (p.Gly32_Ala33del) | in frame | 0.97 | 1 | – | – | – |
| c.1405G>A (p.Gly469Arg) | missense | 0.96 | 3 | oncogenic | class 2 | – |
| c.1789_1790delCTinsTC (p.Leu597Ser) | missense | 0.96 | 2 | likely oncogenic | class 2 | – |
| c.983C>T (p.Pro328Leu) | missense | 0.95 | 1 | – | – | – |
| c.2212T>C (p.Phe738Leu) | missense | 0.94 | 1 | – | – | – |
| c.950C>T (p.Ser317Phe) | missense | 0.94 | 1 | – | – | – |
| c.1750C>T (p.Leu584Phe) | missense | 0.93 | 1 | inconclusive | – | – |
| c.1397G>A (p.Gly466Glu) | missense | 0.93 | 1 | oncogenic | class 3 | – |
| c.952C>T (p.Pro318Ser) | missense | 0.92 | 2 | – | – | BRAF c.1798_1799delGTinsAA (p.Val600Lys)a |
| c.1781A>C (p.Asp594Ala) | missense | 0.92 | 1 | oncogenic | – | – |
| c.990T>G (p.Ile330Met) | missense | 0.92 | 1 | – | – | – |
| c.1780G>A (p.Asp594Asn) | missense | 0.91 | 2 | oncogenic | class 3 | – |
| c.421C>T (p.Pro141Ser) | missense | 0.91 | 1 | – | – | – |
| c.1454T>G (p.Leu485Trp) | missense | 0.90 | 1 | likely oncogenic | class 2 | – |
| c.1781A>G (p.Asp594Gly) | missense | 0.90 | 2 | oncogenic | class 3 | – |
| c.1796C>T (p.Thr599Ile) | missense | 0.85 | 1 | likely oncogenic | class 2 | – |
| c.1495A>G (p.Lys499Glu) | missense | 0.85 | 1 | likely oncogenic | – | – |
| c.1244C>T (p.Ala415Val) | missense | 0.85 | 1 | – | – | – |
| c.1033C>T (p.Pro345Ser) | missense | 0.85 | 1 | – | – | – |
| c.1397G>C (p.Gly466Ala) | missense | 0.85 | 1 | oncogenic | class 3 | – |
| c.1391G>A (p.Gly464Glu) | missense | 0.80 | 1 | oncogenic | class 2 | – |
| c.2203C>T (p.Arg735Trp) | missense | 0.75 | 1 | – | – | – |
| c.1165C>T (p.Arg389Cys) | missense | 0.74 | 1 | – | – | – |
| c.755G>A (p.Arg252Gln) | missense | 0.74 | 1 | – | – | – |
| c.1753C>T (p.His585Tyr) | missense | 0.68 | 1 | – | – | – |
| c.2195C>T (p.Ser732Phe) | missense | 0.66 | 1 | – | – | – |
| c.980G>A (p.Gly327Glu) | missense | 0.66 | 1 | – | – | – |
| c.1400C>T (p.Ser467Leu) | missense | 0.59 | 3 | oncogenic | class 3 | NRAS c.181C>A (p.Gln61Lys)b |
| c.31G>A (p.Gly11Ser) | missense | <0.01 | 1 | – | – | NRAS c.37G>T (p.Gly13Cys)b |
| c.1352A>T (p.Glu451Val) | missense | <0.01 | 1 | – | – | NRAS c.37G>T (p.Gly13Cys)b |
| c.1501G>A (p.Glu501Lys) | missense | <0.01 | 1 | inconclusive | – | NRAS c.35_36delGTinsAG (p.Gly12Glu)b |
| c.1733A>T (p.Lys578Met) | missense | <0.01 | 1 | – | – | NRAS c.181C>A (p.Gln61Lys)b |
a
GenBank: NM_004333.4 (BRAF).
b
GenBank: NM_002524.4 (NRAS).