Table 3.

Selected APC Allelic Variants

Variant ClassificationDNA Nucleotide ChangeProtein Amino Acid Change
(Alias 1)
Reference Sequences
Benignc.5465T>Ap.Val1822Asp
(p.Asp1822Val)
NM_000038​.5
NP_000029​.2
Uncertain clinical significancec.3949G>Cp.Glu1317Gln
Predisposition to colon cancerc.3920T>Ap.Ile1307Lys
Pathogenicc.3927_3931delAAAGAp.Glu1309AspfsTer4

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

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.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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