ClinVar Miner

Submissions for variant NM_000038.6(APC):c.465del (p.Asp156fs)

dbSNP: rs1554071529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562556 SCV000675944 pathogenic Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing The c.465delA pathogenic mutation, located in coding exon 4 of the APC gene, results from a deletion of one nucleotide at nucleotide position 465, causing a translational frameshift with a predicted alternate stop codon (p.D156Tfs*14). 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.
Invitae RCV002529017 SCV001219974 pathogenic Familial adenomatous polyposis 1 2019-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been observed in individual(s) with clinical features of familial adenomatous polyposis (Invitae). ClinVar contains an entry for this variant (Variation ID: 486788). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp156Thrfs*14) in the APC gene. It is expected to result in an absent or disrupted protein product.

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