ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.219_253+46del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002425549 SCV002729421 pathogenic Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing The c.219_253+46del81 pathogenic mutation is located in coding exon 4 of the PTEN gene. This results from a deletion of 81 nucleotides starting at position 219, spanning the rest of coding exon 4, and extending 46 nucleotides into intron 4. This alteration is expected to result in loss of function due to an abnormal transcript, a translational frameshift leading to premature truncation, or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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