ClinVar Miner

Submissions for variant NM_000038.6(APC):c.481C>T (p.Gln161Ter)

dbSNP: rs876658325
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221156 SCV000273397 pathogenic Hereditary cancer-predisposing syndrome 2023-05-30 criteria provided, single submitter clinical testing The p.Q161* pathogenic mutation (also known as c.481C>T), located in coding exon 4 of the APC gene, results from a C to T substitution at nucleotide position 481. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This variant has been reported in several individuals with familial adenomatous polyposis (Matsumoto T et al. Gut 2002 Mar;50(3):402-4; Vandrovcová J et al. Hum. Mutat. 2004 Apr;23(4):397; Friedl W et al. Hered. Cancer Clin. Pract. 2005 Sep;3(3):95-114; Poovorawan K et al. Asian Pac. J. Cancer Prev. 2012;13(10):5101-4). 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.
Invitae RCV003765401 SCV000552519 pathogenic Familial adenomatous polyposis 1 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln161*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with adenomatous polyposis (PMID: 11839722, 20223039, 23244118). ClinVar contains an entry for this variant (Variation ID: 229997). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269625 SCV001449745 pathogenic not provided 2019-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001269625 SCV003918295 pathogenic not provided 2022-10-17 criteria provided, single submitter clinical testing Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 32025882, 11839722, 15024739, 20223039, 23244118)
Myriad Genetics, Inc. RCV002229926 SCV004044776 pathogenic Familial adenomatous polyposis 1 2023-04-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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