ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3298_3301del (p.Ser1100fs)

dbSNP: rs863225341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003650455 SCV000552587 pathogenic Familial adenomatous polyposis 1 2016-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with familial adenomatous polyposis (PMID: 23159591). This sequence change deletes 4 nucleotides from exon 16 of the APC mRNA (c.3298_3301delTCTC), causing a frameshift at codon 1100. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser1100Hisfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein.
Mayo Clinic Laboratories, Mayo Clinic RCV000202195 SCV000256971 likely pathogenic not provided no assertion criteria provided research

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