ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.758_761del (p.Ile253fs) (rs786204903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169844 SCV000222165 pathogenic Hereditary cancer-predisposing syndrome 2014-03-25 criteria provided, single submitter clinical testing This variant is denoted c.758_761delTCAA at the cDNA level and p.I253KfsX2 at the protein level. The normal sequence with the bases that are deleted in braces is: GATA{TCAA}AGTA. The c.758_761delTCAA mutation in the PTEN gene causes a frameshift starting with codon Isoleucine 253, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 2 of the newreading frame, denoted p.Ile253LysfsX2. 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).
Invitae RCV000540508 SCV000645619 pathogenic PTEN hamartoma tumor syndrome 2017-05-23 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 7 of the PTEN mRNA (c.758_761delTCAA), causing a frameshift at codon 253. This creates a premature translational stop signal (p.Ile253Lysfs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.

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