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. 2019 Feb 18;10:47. doi: 10.3389/fgene.2019.00047

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.)