NM_002691.4:c.2718-24A>C is an intronic variant in POLD1 located 24 bases upstream of exon 21, outside the canonical splice consensus region.
SpliceAI predicts no significant splicing impact (max delta score = 0.00), indicating this variant is unlikely to alter normal splicing (BP4).
spliceai ↗The variant is present in gnomAD v2.1 at an allele frequency of 0.458% (358/78,106 alleles) and in v4.1 at 0.494% (2,810/568,564 alleles), far exceeding the maximum credible population frequency for a highly penetrant rare dominant disorder such as polymerase proofreading-associated polyposis (BS1).
gnomad_v2 ↗ gnomad_v4 ↗The variant is absent from ClinVar with no disease associations or submissions, and no publications were identified that specifically mention this variant.
clinvar ↗Based on the generic ACMG/AMP 2015 classification framework (PMID:25741868), the combination of one strong benign criterion (BS1) and one supporting benign criterion (BP4) supports a classification of Likely Benign.
