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Article

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

HGG advances - 9 Jul 2026

Lin Jin-Huan, Wu Hao, Tang Xin-Ying, Masson Emmanuelle, Stenson Peter D, Phillips Andrew D, Cooper David N, Férec Claude, Liao Zhuan, Zou Wen-Bin, Chen Jian-Min

Abstract excerpt

Variants with intermediate functional effects-neither fully disruptive nor functionally neutral-represent an under-recognized source of genetic complexity and define a functional gray zone that complicates variant classification. Here, we address this issue using GT>GC (+2T>C) 5' splice-site variants as a tractable model, as approximately 15%-18% of such substitutions retain variable levels of residual wild-type...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41928472
DOI: 10.1016/j.xhgg.2026.100602
PMCID: PMC13129441

Genes

GC
CFTR
BAP1
BRCA2
HBB
SPINK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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