ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.85_88del (p.Tyr29fs)

dbSNP: rs786204894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169835 SCV000222156 pathogenic Hereditary cancer-predisposing syndrome 2014-02-17 criteria provided, single submitter clinical testing The c.85_88delTATC mutation in the PTEN gene causes a frameshift starting with codon Tyrosine 29, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Tyr29GlnfsX24. 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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