ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.800del (p.Lys267fs) (rs121913289)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231858 SCV000284602 pathogenic PTEN hamartoma tumor syndrome 2015-11-11 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 7 of the PTEN mRNA (c.800delA), causing a frameshift at codon 267. This creates a premature translational stop signal (p.Lys267Argfs*9) and 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 patients affected with Bannayan-Riley-Ruvalcaba syndrome (PMID: 17526800), thyroid cancer (PMID: 21956414), and endometrial carcinoma (PMID: 23949151). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000078622 SCV000490753 pathogenic not provided 2015-05-01 criteria provided, single submitter clinical testing The c.800delA variant in the PTEN gene has been report in association with PTEN-related disorders (Lachlan et al., 2007; Ngeow et al., 2011). The c.800delA deletion in the PTEN gene causes a frameshift starting with codon Lysine 267, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Lys267ArgfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.800delA to be a pathogenic variant.
Ambry Genetics RCV000491764 SCV000579966 pathogenic Hereditary cancer-predisposing syndrome 2018-01-24 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Database of Curated Mutations (DoCM) RCV000419293 SCV000504403 pathogenic Neoplasm of the large intestine 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426937 SCV000504404 pathogenic Neoplasm of the breast 2014-10-02 no assertion criteria provided literature only

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