ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs)

dbSNP: rs786204906
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169847 SCV000222168 pathogenic Hereditary cancer-predisposing syndrome 2013-12-18 criteria provided, single submitter clinical testing This variant is denoted c.928_929insGTGCA at the cDNA level and p.D310VfsX9 at the protein level. The normal sequence with the bases that are inserted in braces is: GCAG{TGCAG}ATAA. The c.928_929insGTGCA mutation in the PTEN gene causes a frameshift starting with codon Aspartic acid 310, changes this amino acid to a Valine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Asp310ValfsX9. 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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