ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.328C>T (p.Gln110Ter) (rs1114167629)

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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 RCV000491715 SCV000579980 pathogenic Hereditary cancer-predisposing syndrome 2016-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000537933 SCV000645570 pathogenic PTEN hamartoma tumor syndrome 2017-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 110 (p.Gln110*) of the PTEN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported in the literature in individuals with Cowden syndrome (PMID: 20223021, 25669429), as well as in individuals affected with breast cancer (PMID: 9399897), prostate cancer (PMID:11234884), or glioblasoma (PMID: 21869887). For these reasons, this variant has been classified as Pathogenic.

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