Glossary Term
Splice-Site Mutation
PCR TermsEN
Definition
Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.
Extended Notes
Source: National Cancer Institute, NCI Thesaurus 26.09d, C19798. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Also Known As
Splice Region VariantSplice-Juction MutationSplice-Site MutationSplice-Site Mutation Abnormality
References
- NCI Thesaurus 26.09d — Splice-Site Mutation (C19798)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C19798. NCI definition, reproduced without modification under CC BY 4.0.
- A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome. — Pediatr Allergy Immunol Pulmonol, 2026-07-01 (PMID 42384008; literature)
- Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome. — Front Med (Lausanne), 2026-06-19 (PMID 42404581; literature)
- DOCK2 deficiency due to a novel cryptic splice site mutation. — J Hum Immun, 2026-10-26 (PMID 42929757; literature)