ClinVar Miner

Submissions for variant NM_000038.6(APC):c.450_453del (p.Glu151fs)

dbSNP: rs863225355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000202178 SCV000566032 pathogenic not provided 2019-12-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 11247896, 20223039)
Invitae RCV003335214 SCV001583963 pathogenic Familial adenomatous polyposis 1 2020-04-13 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 (PMID: 11247896). This variant is also known as 450delAGAA in the literature. ClinVar contains an entry for this variant (Variation ID: 217984). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu151Lysfs*18) in the APC gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002327054 SCV002636507 pathogenic Hereditary cancer-predisposing syndrome 2021-07-08 criteria provided, single submitter clinical testing The c.450_453delAGAA variant, located in coding exon 4 of the APC gene, results from a deletion of 4 nucleotides at nucleotide positions 450 to 453, causing a translational frameshift with a predicted alternate stop codon (p.E151Kfs*18). This alteration was identified in 2/1164 unrelated German index patients with a clinical diagnosis of FAP or AFAP (Friedl W et al. Hered Cancer Clin Pract, 2005 Sep;3:95-114). In addition to the clinical data presented in the literature, 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.
Myriad Genetics, Inc. RCV003335214 SCV004045618 pathogenic Familial adenomatous polyposis 1 2023-04-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000202178 SCV000256999 pathogenic not provided no assertion criteria provided research

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