ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7711_7716del (p.Ser2571_Ser2572del) (rs760567682)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557202 SCV000647727 uncertain significance Familial adenomatous polyposis 1 2017-01-20 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 16 of the APC mRNA (c.7711_7716delTCTTCA). This leads to the deletion of 2 amino acid residues in the APC protein (p.Ser2571_Ser2572del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760567682, ExAC 0.002%) but has not been reported in the literature in individuals with a APC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid residues is currently unknown. In summary, this is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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