Table 1.
Gene | Chr:Pos (hg19) | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect (ACMG) | dbSNP | Genotype | ClinVar ID |
---|---|---|---|---|---|---|---|---|
PTEN | 10:89717717-89717717 | c.151C > T, c.742 C > T, c.1261C > T | p.P51S, p.P248S, p.P421S | Missense | Uncertain significance | - | Heterozygous | - |
TP53 | 17:7577535-7577535 | c.269G > T, c.350G > T, c.629G > T, c.713G > T, c.746G > T | p.R90M, p.R117M, p.R210M, p.R238M, p.R249M | Missense | Pathogenic | 587782329 | Heterozygous | RCV000428988.1 |