The BRCA2 c.9257-18C>A variant has been reported in ClinVar, where most clinical laboratory submissions classify it as likely benign or benign, although one submission remains uncertain.
clinvar ↗This variant is present at very low frequency in population databases, with 3/240598 alleles in gnomAD v2.1 and 10/1607522 alleles in gnomAD v4.1; these frequencies are below the BS1 and BA1 thresholds but do not meet the PM2 absence requirement.
gnomad_v2 ↗ gnomad_v4 ↗ cspec ↗In a published RNA study, RT-PCR showed no aberrant splicing for this variant, and the BRCA multifactorial splicing dataset also records no aberration, which is consistent with no measurable splice disruption.
Computational splicing prediction supports a benign interpretation, with SpliceAI showing a maximum delta score of 0.01, below the BRCA2 BP4 threshold of 0.1 and well below the PP3 threshold of 0.2.
spliceai ↗ cspec ↗
