ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3551_3559delinsTTTCTG (p.Ala1184_Ile1187delinsValSerVal)

dbSNP: rs1580636901
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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 RCV001020588 SCV001182087 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-19 criteria provided, single submitter clinical testing The c.3551_3559delCCACAGATAinsTTTCTG variant, also known as p.A1184_I1187delinsVSV, located in coding exon 15 of the APC gene, results from an in-frame deletion of CCACAGATA and insertion of TTTCTG at nucleotide positions 3551 to 3559. This results in the deletion of 4 residues (ATDI) and insertion of 3 residues (VSV) at codon 1184 to 1187. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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