ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2991_2996del (p.Tyr997_Gln999delinsTer)

dbSNP: rs1114167562
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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 RCV000491900 SCV000579829 pathogenic Hereditary cancer-predisposing syndrome 2014-08-07 criteria provided, single submitter clinical testing The c.2991_2996delTGGTCA pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of six nucleotides between positions 2991 and 2996. The resulting translational frameshift changes the amino acid at codon 997 from a tyrosine to a stop codon. Since frameshifts and 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).

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