ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3734dup (p.Ala1246fs)

dbSNP: rs1114167595
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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 RCV000491893 SCV000579900 pathogenic Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing The c.3734dupA pathogenic mutation, located in coding exon 15 of the APC gene, results from a duplication of A at nucleotide position 3734, causing a translational frameshift with a predicted alternate stop codon. 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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