ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.884_885insTT (p.Cys296fs)

dbSNP: rs587780006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115589 SCV000149498 pathogenic Hereditary cancer-predisposing syndrome 2013-09-11 criteria provided, single submitter clinical testing This variant is denoted c.884_885insTT at the cDNA level or at the protein level as p.Cys296TyrfsX12. The sequence shown with the inserted bases in braces is: GTCT{TT}ATGT. The c.884_885insTT mutation in the PTEN gene causes a frameshift starting with codon Cysteine 296, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Cys296TyrfsX12. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in PTEN panel(s).

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