ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.771_772del (p.Phe258fs)

dbSNP: rs786204904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169845 SCV000222166 pathogenic Hereditary cancer-predisposing syndrome 2013-12-04 criteria provided, single submitter clinical testing This variant is denoted The c.771_772delCT at the cDNA level and p.F258PfsX39 at the protein level. The normal sequence with the bases that are deleted in braces is: GAGTT{CT}TCCAC. The c.771_772delCT mutation in the PTEN gene causes a frameshift starting with codon Phenylalanine 258, changes this amino acid to a Proline residue and creates a premature Stop codon at position 39 of the new reading frame, denoted p.Phe258ProfsX39. 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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