Table 2 List of variants detected in MPL, TERC, and TERT genes
Affected gene | Exon/Intron | Nucleotide change | Amino acid change | GenomAD frequency | Variation type | Status of variant/no of pts | Reference dbSNP ID | Reference |
|---|---|---|---|---|---|---|---|---|
C-MPL NM_005373.3 | Exon 3 | g.828G>A (c.305G>A) | p.Arg102His | 0.00000795 | Pathogenic | Homozygous/1 | rs28928907 | [23] |
g.863G>A(c.340G>A ) | p.Val 114Met | 0.0246 | Benign | Heterozygous/3 | rs12731981 | Â [24] | ||
Exon 4 | g.1474C>G (c.401C>G) | P.Ala143Gly | Not detected | Benign | Heterozygous/1 | Novel | -------- | |
g.1616T>C (c.543T>C) | P.Gly181= | 0.00202 | Benign | heterozygous/1 | rs17572791 | [25] | ||
g.1763A>G (c.690A>G) | p.Glu 230= | 0.0344 | Benign | heterozygous/1 | rs16830693 | Reported in Clinvar | ||
Intron 6 | g.8598G>A (c.981–41G>A) | Intronic | 0.312 | Benign | Heterozygous/1 | rs1760670 | Reported in Clinvar | |
Intron 8 | g.9130T>G(+81T>G) | Splice site | Not detected | Benign | Heterozygous/1 | Novel | ------ | |
Intron 9 | g.11387T>C(c.1469–70 T>C) | Intronic | 0.301 | Benign | Heterozygous/4, homozygous/1 | rs839995 | Reported in dbSNP | |
Intron 10 | g.11634T>A | ------- | Not detected | Benign | Heterozygous/10 | Novel | ------ | |
Exon 11 | g.14433C>T (c.1589 C>T) | P.Pro530 leu | 0.00000797 | Pathogenic | Homozygous/1 | Novel | ---- | |
g.14475G>A(c.1631G>A) | p. Arg544Lys | Not detected | Benign | Heterozygous/1 | Novel | ----- | ||
TERC NR_001566.1 | Down-stream | n. 514A>G | ----- | 0.00000675 | Benign | Heterozygous/6, Homozygous/1 | rs2293607 | [26] |
3 prime UTR | n. 463C>T | ------ | 0.000119 | Benign | Heterozygous/1 | rs150338214 | Reported in Clinvar | |
TERT NM_198253.3 | Exon 2 | g.668 G>A ( c.484 G>A) | p.Val162Met | Not detected | Pathogenic | Heterozygous/1 | Novel | ----- |
g.683G>A (C.499G>A) | p.Ala167Thr | Not detected | Conflicting | Heterozygous/6 | Novel | ----- | ||
g.696 G>A (c.512G>A) | p.Cys171Tyr | Not detected | Pathogenic | Heterozygous/3 | Novel | ----- | ||
g.945 G>A ( C.761G>A) | P.Gly254Glu | Not detected | benign | Heterozygous/1 | Novel | ----- | ||
g.1019 >/A (c.835 G>A) | p.Ala279Thr | 0.0225 | conflicting | Heterozygous/4 | rs61748181 | [26] | ||
g.1099>/A (c.915G>A) | p.Ala305= | 0.287 | benign | Heterozygous/9,Homozygous/2 | rs2736098 | [27] | ||
g..1520C>G(c.1336C>G) | P.Arg446Gly | 0.000841 | Benign | Heterozygous/1 | rs567650961 | Reported in Clinvar | ||
Exon 5 | g.15680C>T (c.2031C>T) | p.Gly677= | 0.0101 | Conflicting | Heterozygous/2 | rs33956095 | [27] | |
Intron 4 | g.15579C>G(+21C>G) | Intronic | Not detected | Benign | Heterozygous/1 | Novel | ------- | |
Intron6 | g.22755A>G(+35A>G) | Intronic | Not detected | Benign | Heterozygous/1 | Novel | ------- | |
Intron 7 | g.22912G>T(c.2382+27G>T | Intronic | 0.000192 | Benign | Heterozygous/1 | rs200578375 | Reported in dbSNP | |
Exon 15 | g.40571C>G(c.3164C>G) | P.Ser1055Trp | Not detected | Pathogenic | Heterozygous/1 | Novel | ------ | |
Intron 15 | g.40734A>G(c.3295+32A>G | Intronic | 0.0151 | Benign | Heterozygous/2 | rs34742644 | [28] |