ID | Germline candidate gene | HGVS.c | HGVS.p | Coding Impact | gnomAD | SIFT | PolyPhen2 | DANN | CADD | ClinVar database | ACMG classification |
|---|
P9 | PTEN | c.C697T | p.R233X rs121909219 | Non- sense | - | - | - | 0.997 | 37 | Pathogenic | Pathogenic |
- The table follows the nomenclature recommended by the Human Genome Variation Society (HKVC) where HGVS.c refers to the coding variant and HGVS.p to the protein level variant
- gnomAD genome aggregation database (provision of allele frequency), SIFT Sorting intolerant from tolerant, PolyPhen2 Polymorphism Phenotyping, version 2, CADD Combined annotation dependent depletion (provision of Phred score, version 1.6), DANN Deep neural network (provision of a functional prediction score), ClinVar Archive of interpretations of clinically relevant variants, ACMG American College of medical Genetics and genomics
