Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485607 | SCV000566900 | uncertain significance | not provided | 2015-06-10 | criteria provided, single submitter | clinical testing | This insertion of 27 nucleotides in APC is denoted c.4977_5003dup27 at the cDNA level and p.D1659_N1667dup at the protein level. The normal sequence, with the bases that are inserted in braces, is GTGA[dup27]GTTA. This in frame insertion occurs in a region which is conserved through mammals and is located within SAMP repeats/axin binding domain (Azzopardi 2008). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC D1659_N1667dup to be a variant of uncertain significance. |
Invitae | RCV003535749 | SCV000647550 | uncertain significance | Familial adenomatous polyposis 1 | 2022-11-15 | criteria provided, single submitter | clinical testing | This variant, c.4977_5003dup, results in the insertion of 9 amino acid(s) of the APC protein (p.Asp1659_Asn1667dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 419228). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV001023352 | SCV001185216 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-02 | criteria provided, single submitter | clinical testing | The c.4977_5003dup27 variant (also known as p.D1659_N1667dup), located in coding exon 15 of the APC gene, results from an in-frame duplication of 27 nucleotides at nucleotide positions 4977 to 5003. This results in the duplication of 9 extra residues (DLTIESPPN) between codons 1659 and 1667. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |