Table 3.
Twenty VUS with susceptibility to be likely pathogenic.
ID | Gene | Mutation type | HGVS_P | CHR | POS | REF | ALT | intervar_evide | Pop_Freq | Degrees |
---|---|---|---|---|---|---|---|---|---|---|
E10335 | TP53 | Missense variant | p.Val197Glu | 17 | 7578259 | A | T | PM1;PM2;PP3 | 0 | VUS |
E09012 | BRIP1 | Missense variant | p.Gln102Arg | 17 | 59934493 | T | C | PM1;PM2;BP4 | 0 | VUS |
E09012 | PDGFRA | Missense variant | p.Thr234Ile | 4 | 55131158 | C | T | PM1;PM2;PP3 | 0 | VUS |
E09012 | APC | Missense variant | p.Leu662Ile | 5 | 112173275 | C | A | PM1;PM2;PP3 | 9.00E-04 | VUS |
E09117 | POLE | Missense variant | p.Arg793His | 12 | 133241978 | C | T | PM1;PM2;PP3 | 1.22E-04 | VUS |
E09151 | MSH2 | Missense variant | p.Ile735Val | 2 | 47703703 | A | G | PM1;PM2;PP3 | 0.001 | VUS |
E09162 | BRIP1 | Missense variant | p.Leu340Phe | 17 | 59878736 | G | A | PM1;PM2;PP3 | 2.00E-04 | VUS |
E10164 | PMS2 | Missense variant | p.Pro771Gln | 7 | 6017352 | G | T | PM1;PM2;PP3 | 5.82E-05 | VUS |
E10168 | NTHL1 | Missense variant | p.Pro125Thr | 16 | 2096134 | G | T | PM1;PM2;PP3 | 5.80E-05 | VUS |
E10220 | NF2 | Missense variant | p.Ile487Leu | 22 | 30074197 | A | C | PM1;PM2;BP4 | 0 | VUS |
E10308 | PMS2 | Missense variant | p.Val302Phe | 7 | 6031688 | C | A | PM1;PM2;PP3 | 1.00E-04 | VUS |
E10315 | CHEK2 | Missense variant | p.Ser252Asn | 22 | 29107934 | C | T | PM1;PM2;PP3 | 0.001 | VUS |
E10354 | NF2 | Missense variant | p.Arg376Gln | 22 | 30069262 | G | A | PM1;PM2;PP3 | 1.14E-05 | VUS |
E11214 | STK11 | Missense variant | p.Arg42Leu | 19 | 1207037 | G | T | PM1;PM2;BP4 | 8.00E-04 | VUS |
E11235 | BARD1 | Missense variant | p.Arg99Lys | 2 | 215657089 | C | T | PM1;PM2;PP3 | 0 | VUS |
E11303 | BRCA2 | Missense variant | p.Ala2911Glu | 13 | 32950906 | C | A | PM2;PM3;PP5 | 0 | VUS |
E11348 | TSC2 | Missense variant | p.Val67Phe | 16 | 2100461 | G | T | PM1;PM2;PP3 | 0 | VUS |
E12047 | MLH1 | Missense variant | p.Ser368Leu | 3 | 37067192 | C | T | PM1;PM2;PP4 | 0.001 | VUS |
E12173 | POLD1 | Missense variant | p.Gly504Arg | 19 | 50910363 | G | C | PM1;PM2;PP5 | 0 | VUS |
E12269 | MLH1 | Missense variant | p.Val152Met | 3 | 37050305 | C | A | PM1;PM2;PP6 | 8.13E-06 | VUS |
VUS, variants of uncertain significance; PM, moderate pathogenicity; PP, supporting pathogenicity; BP, benign supporting pathogenicity. (The interpretation and grade of the sequence variants refer to PMID 25741868.)