ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2939_2941del (p.Lys980_Pro981delinsThr)

gnomAD frequency: 0.00001  dbSNP: rs772573597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742629 SCV000647283 uncertain significance Familial adenomatous polyposis 1 2017-05-11 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 16 of the APC mRNA (c.2939_2941delAAC). This leads to the deletion of 2 amino acid residues and the insertion of 1 unrelated amino acid in the APC protein (p.Lys980_Pro981delinsThr) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772573597, ExAC 0.009%) but has not been reported in the literature in individuals with a APC-related disease. In summary, this is a rare complex change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted and inserted amino acids is currently unknown.

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