Table 2.
Case | Gene Mutation | VAF (%) | Status | dbSNP ID | MAF | COSMIC ID α HGMD ID β | ClinVar Prediction γ MutTaster Prediction δ | Notes |
---|---|---|---|---|---|---|---|---|
88 | KRAS c.389C > T; p.A130V | 44.9 | Germ line | rs730880473 | <0.01 | COSM4169153 α | Uncertain significance γ | Simultaneous RET M918T (s); reported as “neutral” (Wang et al., 2019) |
41 | RET c.2774A > C; p.D925A | 46.7 | Somatic | Novel | – | Novel | Disease causing δ | Occurring in -cis with RET M918T (s) |
242 | RET c.890G > A; p.R297H | 11.8 | Somatic | Novel | – | Novel | Polymorphism δ | Simultaneous RET M918T (s) |
196 | RET c.2497C > T; p.R833C | 25 | Somatic | rs377767422 | <0.01 | CM068590 β | Likely pathogenic γ | Simultaneous RET M918T (s) |
20,169,196251,253 | MET c.3029C > T; p.T1010I | Various | Somatic; germ line | rs56391007 | <0.01 | COSM707 α CM118113 β |
Conflicting results δ | |
176 | NRAS c.53C > T; p.A18V | 7.5 | Somatic | Novel | – | Novel | Disease causing δ | Simultaneous RET C634W (s) |
91 | RET c.644G > T; R215L | 49.9 | Germ line | rs748128929 | <0.01 | – | Polymorphism δ | Simultaneous RET C634Y (s) |
201 | PPM1D c.1405A > G; p.K469E | 37.5 | Germ line | rs61756416 | <0.01 | – | Disease causing δ | Simultaneous RET E898_E901del (s); reported as “benign” in breast and ovarian cancer (Ruark et al., 2013) |
132 | RET c.2710T > C; p.S904P | 30.8 | Somatic | Novel | – | Novel | Disease causing δ | Occurring in -cis with RET E898_E901del (s) |
128 |
RET c.1908_1909insTGCCG CACG; p.T636_V637delinsCRT |
35.4 | Somatic | rs377767437 | – | CI983210 β | Likely pathogenic γ | Described germ-line in MEN2A (Höppner et al., 1998) |
122 | RET c.1886_1891delTGTGCG; p.L629_D631delinsH | 38.4 | Somatic | NA | – | COSM27040 α | – | Likely driver |
302 |
RET c.1894_1902delGAGCT GTGC; p.E632_C634del |
42.9 | Somatic | Novel | – | Novel | – | Likely driver |
252 | RET c.3071C > T; p.S1024F | 17.6 | Somatic | Novel | – | Novel | Disease causing δ | Likely driver |
3 | TP53 c.847C > T; p.R283C | 48.1 | n.v. | rs149633775 | <0.01 | COSM10911 α/CM041458 β | Conflicting results δ | Simultaneous RET C618G (s) |
52 | TSHR c.1888A > C; p.I630L | 31 | Somatic | – | – | COSM26432 α/CM100952 β | Disease causing δ | Simultaneous TP53 R158C (g) |
52 | TP53 c.472C > T; p.R158C | 52.8 | Germinal | rs587780068 | <0.01 | COSM43848 α/CM121763 β | Pathogenic γ | Simultaneous TSHR I630L (s) |
196 | EIF1AX c.404G > C; G135A | 41.4 | n.v. | Novel | Novel | Disease causing δ | ||
198 | CHK2 c.341G > A; W114* | 10.1 | n.v. in blood | Novel | Novel | Disease causing δ |
n.v., not detectable by direct sequencing.