ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) (rs786204910)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204017 SCV000259661 pathogenic PTEN hamartoma tumor syndrome 2015-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 17 (p.Gln17*). It is expected to result in an absent or disrupted protein product. Truncating variants in PTEN are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS), collectively also known as PTEN hamartoma tumor syndrome (PMID: 21194675, 21659347, 22266152, 25669429). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000169851 SCV000277049 pathogenic Hereditary cancer-predisposing syndrome 2015-07-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000169851 SCV000905164 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002035 SCV001159859 pathogenic not specified 2019-03-20 criteria provided, single submitter clinical testing The PTEN c.49C>T; p.Gln17Ter variant (rs786204910) is reported in the literature in individuals with PTEN harmartoma tumor syndrome (Heindl 2012, Sarquis 2006, Tan 2011), and is reported as pathogenic in ClinVar (Variation ID: 189458). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Heindl M et al. Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. Gastroenterology. 2012 May;142(5):1093-1096.e6. Sarquis MS et al. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet. 2006 Jul;79(1):23-30. Tan MH et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011 Jan 7;88(1):42-56.

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