Table 7.

Notable APC Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000038​.5
NP_000029​.2 		c.3927_3931delAAAGAp.Glu1309AspfsTer4The most common reported APC germline pathogenic variant
c.3920T>Ap.Ile1307LysFounder variant in persons of Ashkenazi Jewish ancestry [Boursi et al 2013]
NM_000038​.5 c.221-1G>A--Founder variant in persons from Newfoundland [Spirio et al 1999, Woods et al 2010]
NG_008481​.4 Insertion of 337 bp of Alu I sequence cd. 1526 1--Founder variant in persons of Amish ancestry [Halling et al 1999]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions.

From: APC-Associated Polyposis Conditions

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