ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2910_2911del (p.Ser970fs) (rs1060503307)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461230 SCV000552598 pathogenic Familial adenomatous polyposis 1 2016-08-16 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 16 of the APC mRNA (c.2910_2911delTG), causing a frameshift at codon 970. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser970Argfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein by eliminating ~1870 amino acid residues (~66%) from the full length protein. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with familial adenomatous polyposis (PMID: 17064931, 1316610 ). For these reasons, this variant has been classified as Pathogenic.

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