ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6038A>C (p.His2013Pro)

dbSNP: rs1064794914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484755 SCV000570203 uncertain significance not provided 2016-05-05 criteria provided, single submitter clinical testing This variant is denoted APC c.6038A>C at the cDNA level, p.His2013Pro (H2013P) at the protein level, and results in the change of a Histidine to a Proline (CAT>CCT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. APC His2013Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Histidine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. APC His2013Pro occurs at a position that is conserved across species and is located within the Serine-rich region, the 20-amino acid repeat B-catenin down-regulating domain, and the SAMP repeats/axin binding domain (Azzopardi 2008, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether APC His2013Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV003168956 SCV003866202 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing The p.H2013P variant (also known as c.6038A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 6038. The histidine at codon 2013 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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