ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) (rs876659280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222855 SCV000275564 pathogenic Hereditary cancer-predisposing syndrome 2015-05-04 criteria provided, single submitter clinical testing Thep.S2572* pathogenic mutation (also known as c.7715C>G) located in coding exon 15 of theAPC gene, results from a C to G substitution at nucleotide position 7715. This changes the amino acid from a serine to a stop codon within coding exon 15. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825577 SCV000966911 likely pathogenic Familial multiple polyposis syndrome 2018-04-17 criteria provided, single submitter clinical testing The p.Ser2572X variant in APC has not been previously reported in individuals wi th familial adenomatous polyposis (FAP) or other APC-associated cancers and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 2572. This termination codon occurs within the la st exon and is more likely to escape nonsense mediated decay (NMD) and result in a truncated protein. Loss-of-function variants in the last exon of APC have bee n reported as disease causing in individuals with FAP. In summary, although addi tional studies are required to fully establish its clinical significance, the p. Ser2572X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_Strong; PM2.

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