Table 1 Variants identified within the MLH1 DMR and MLH1 gene
Case ID (Dámaso et al., 2018) | Familial relationship | % Methylation in blood | MLH1 promoter variants | Rare variants at DMR | Rare heterozygous variants in MLH1 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
(C-Deng region, MS-MLPA) | hg38 position | HGVS nomenclature | Allele in cis to the MAA in the CME carrier | hg38 position | HGVS nomenclature | SNP ID | Allele in cis to the MAA | |||
ICO_1 | Proband | 56 | chr3:36,993,455 | c.-93G > A (het.) | c.-93A | – | – | – | – | – |
– | Daughter of CME1 | 0 | chr3:36,993,455 | c.–93G > A (het.) | – | – | chr3:37,006,801 | c.381-176dup | rs35239510 | UP |
CHN_1 | Proband | 47 | chr3:36,993,455 | c.-93G > A (het.) | c.-93A | – | chr3:37,026,448 | c.1409 + 441G > A | rs182901684 | c.1409 + 441A |
chr3:37,027,234 | c.1409 + 1227C > T | rs1355851976 | c.1409 + 1227C | |||||||
– | Daughter of E2, sister of R.2.2 | 0 | chr3:36,993,455 | c.-93G > A (hom.) | – | – | chr3:37,001,778 | c.306 + 725A > G | rs111823385 | UP |
chr3:37,026,448 | c.1409 + 441G > A | rs182901684 | UP | |||||||
– | Son of CME2, brother of R2.1 | 0 | chr3:36,993,455 | c.-93G > A (het.) | – | NA | NA | NA | NA | NA |
HGUE_5 | Proband | 49 | chr3:36,993,455; | c.-93G > A (het.); | c.-93A | c.-234_-236del (het.) | chr3:37,009,746 | c.545 + 841A > G | rs562465919 | c.545 + 841G |
chr3:36,993,312–36,993,314 | c.-234_-236del (het.) | |||||||||
HGUE_2 | Proband | 49 | chr3:36,993,455 | c.-93G > A (het.) | c.-93G | – | – | – | – | – |