ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.21_37del (p.Ile8fs)

dbSNP: rs786204882
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169823 SCV000222143 pathogenic Hereditary cancer-predisposing syndrome 2014-08-19 criteria provided, single submitter clinical testing The c.21_37del mutation in the PTEN gene causes a frameshift starting with codon Isoleucine 8, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Ile8LysfsX30. 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,PTEN panel(s).

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