ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3179_3184del (p.Ile1060_Gln1062delinsLys)

dbSNP: rs1057517624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412331 SCV000489560 uncertain significance Familial adenomatous polyposis 1 2016-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019012 SCV001180315 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-10 criteria provided, single submitter clinical testing The c.3179_3184delTAAAAC variant (also known as p.I1060_Q1062delinsK) is located in coding exon 15 of the APC gene. This variant results from an in-frame TAAAAC deletion at nucleotide positions 3179 to 3184, resulting in the deletion of three residues (IKQ) and insertion of a single lysine. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000412331 SCV004018463 uncertain significance Familial adenomatous polyposis 1 2023-02-14 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health RCV003995913 SCV004831008 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-06-26 criteria provided, single submitter clinical testing This variant causes the deletion of three amino acid residues and the insertion of a single lysine in the APC protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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