ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2496_2502del (p.Ser833fs)

dbSNP: rs1114167576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491052 SCV000579861 pathogenic Hereditary cancer-predisposing syndrome 2015-05-25 criteria provided, single submitter clinical testing The c.2496_2502delCAGCTCC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of 7 nucleotides between positions 2496 and 2502, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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).

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