ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs)

dbSNP: rs786204902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169843 SCV000222164 pathogenic Hereditary cancer-predisposing syndrome 2014-05-22 criteria provided, single submitter clinical testing This variant is denoted c.739_740insAT at the cDNA level and p.L247YfsX10 at the protein level. The sequence shown with the inserted bases in braces is: CCGT{AT}TACC. The c.739_740insAT mutation in the PTEN gene causes a frameshift starting with codon Leucine 247, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Leu247TyrfsX10. 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).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243839 SCV002512221 likely pathogenic Cowden syndrome 1 2021-04-30 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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