ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5421_5423CAA[1] (p.Asn1808del) (rs587782002)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130417 SCV000185279 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000477415 SCV000552666 uncertain significance Familial adenomatous polyposis 1 2018-12-30 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 16 of the APC mRNA (c.5424_5426delCAA). This leads to the deletion of 1 amino acid residue in the APC protein (p.Asn1808del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753952265, ExAC 0.003%). This variant has been reported in an individual affected with breast cancer (PMID: 26976419). ClinVar contains an entry for this variant (Variation ID: 141776). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000484746 SCV000569058 uncertain significance not provided 2018-11-21 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in APC is denoted c.5424_5426delCAA at the cDNA level and p.Asn1808del (N1808del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAA[delCAA]AGAT. This variant has been observed in at least one individual with breast cancer an individual with a personal history of a Lynch syndrome-associated cancer and/or polyps (Yurgelun 2015, Tung 2016). This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). This deletion of a single Asparagine residue is located in the 20-aa repeat beta-catenin down-regulating domain and SAMP repeats/axin binding domain (Azzopardi 2008). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC Asn1808del to be a variant of uncertain significance.
PreventionGenetics,PreventionGenetics RCV000484746 SCV000805431 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing
Color RCV000130417 SCV000911197 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing

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