ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1464_1467del (p.Thr489fs)

dbSNP: rs1114167602
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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 RCV000491023 SCV000579910 pathogenic Hereditary cancer-predisposing syndrome 2018-02-05 criteria provided, single submitter clinical testing The c.1464_1467delTACT pathogenic mutation, located in coding exon 11 of the APC gene, results from a deletion of 4 nucleotides at nucleotide positions 1464 to 1467, causing a translational frameshift with a predicted alternate stop codon (p.T489Mfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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