ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5287A>G (p.Asn1763Asp)

dbSNP: rs1440736149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004570475 SCV001387248 uncertain significance Familial adenomatous polyposis 1 2019-05-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 1763 of the APC protein (p.Asn1763Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV004944888 SCV005461550 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-30 criteria provided, single submitter clinical testing The c.5287A>G (p.N1763D) alteration is located in exon 16 (coding exon 15) of the APC gene. This alteration results from a A to G substitution at nucleotide position 5287, causing the asparagine (N) at amino acid position 1763 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040028 SCV005667863 uncertain significance Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2024-04-22 criteria provided, single submitter clinical testing

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