ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3239_3240AG[1] (p.Ser1081fs) (rs1060503327)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463251 SCV000552653 pathogenic Familial adenomatous polyposis 1 2017-01-25 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 16 of the APC mRNA (c.3241_3242delAG), causing a frameshift at codon 1081. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser1081Hisfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in an individual with familial adenomatous polyposis (FAP) (PMID: 9375853). In addition, multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with FAP (PMID: 17064931). This variant is also known as 3239delAG (T1082X) in the literature. For these reasons, this variant has been classified as Pathogenic.

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