Variant interpretation Flashcards
1
Q
Genetic changes that may be missed in testing
A
- epigenetic alterations (abnormal methylation)
- trinucleotide repeat expansion
- deep intronic changes
2
Q
Li- Fraumeni syndrome
A
- autosomal dominant
- TP53
- The lifetime risk of cancer is ≥70% for men and ≥90% for women Risk changes with age. 22% of the cancers between 0 and 15 years, 51% between 16 and 50 years, and 27% between 51 and 80 years
3
Q
Phasing (testing parents)
A
Variants in cis or trans in AR disorder
De novo data gives moderate/strong evidence of pathogenicity
