Table 7.
35 variants downgraded from VUS to Benign/Likely benign.
| Gene | Variant | Current classification | Evidence used for downgrade |
|---|---|---|---|
| MLH1 | c.977T>C (p.Val326Ala) | PM | Pheno and MCO |
| MSH6 | c.3203G>A (p.Arg1068Gln) | Likely benign | MCO |
| MLH1 | c.1321G>A (p.Ala441Thr) | PM | MCO and Phase |
| MSH2 | c.1465G>A (p.Glu489Lys) | PM | MCO and Pheno |
| MSH6 | c.3173-18T>A | PM | MCO and Pheno |
| MSH6 | c.-18G>T | PM | MCO and Phase |
| PMS2 | c.2149G>A (p.Val717Met) | Likely benign | Phase |
| PMS2 | c.2356C>A (p.Leu786Met) | Likely benign | Phase |
| MLH1 | c.1732-19T>A | PM | Phase |
| MLH1 | c.1897-17C>G | PM | Phase, Pheno |
| MSH2 | c.815C>T (p.Ala272Val) | PM | Phase, Pheno |
| MSH2 | c.1168C>T (p.Leu390Phe) | PM | Phase |
| MLH1 | c.1360G>C (p.Gly454Arg) | PM | Pheno |
| MSH6 | c.1474A>G (p.Met492Val) | Likely benign | Pheno |
| MSH2 | c.877A>G (p.Thr293Ala) | Likely benign | Pheno |
| MLH1 | c.2066A>G (p.Gln689Arg) | Likely benign | Pheno |
| MLH1 | c.1268G>A (p.Arg423Lys) | Likely benign | Pheno |
| MSH6 | c.1844G>C (p.Cys615Ser) | Likely benign | Pheno |
| MSH2 | c.160G>T (p.Ala54Ser) | Likely benign | Pheno |
| MLH1 | c.1667+4A>G | Likely benign | Pheno |
| MSH2 | c.1600C>T (p.Arg534Cys) | Likely benign | Pheno |
| PMS2 | c.251-20T>G | Likely benign | Population |
| PMS2 | c.52A>G (p.Ile18Val) | PM | Population |
| MLH1 | c.307-19A>G | PM | Splicing |
| MLH1 | c.1963A>G (p.Ile655Val) | PM | MCO,Phase |
| MSH6 | c.3160A>T (p.Ile1054Phe) | PM | Population |
| PMS2 | c.1437C>G (p.His479Gln) | PM | Population |
| PMS2 | c.1711C>A (p.Leu571Ile) | PM | Population |
| MSH2 | c.380A>G (p.Asn127Ser) | PM | Phase,Pheno |
| MSH2 | c.1321A>C (p.Thr441Pro) | PM | Phase,Pheno |
| MSH6 | c.2633T>C (p.Val878Ala) | PM | Phase |
| PMS2 | c.1609G>A (p.Glu537Lys) | PM | Population |
| MSH6 | c.3488A>T (p.Glu1163Val) | PM | Population |
| MSH2 | c.1387-8G>T | PM | Phase |
| MSH2 | c.1277-8T>C | PM | Pheno |