FANCA variant c.3624C>T generates a cryptic splice site. (A) Schematic of FANCA alleles in fibroblasts from individual 2. A large deletion extending from exons 31 to 43 is present on 1 allele. The other allele is c.3624C>T (top). Traces from Sanger sequencing of the reverse transcription PCR product amplified from the region around FANCA exon 36 using RNA derived from the RA2349 cell line. The c.3624C>T variant appears to create an aberrant splice donor site that is 4 bp upstream of the canonical exon 36 donor site, predicted to lead to a frameshift (bottom). (B) Schematic showing that the sequence around the c.3624C>T variant, predicted to be synonymous, affects RNA splicing. (C) Classification of the c.3624C>T variant according to American College of Medical Genetics and Genomics ACMG criteria.