ClinVar Miner

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

dbSNP: rs1057517624
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Total submissions: 3
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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. RCV003316515 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.

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