ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.301_311del (p.Ile101fs)

dbSNP: rs1589646106
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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 RCV001018054 SCV001179233 pathogenic Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing The c.301_311del11 pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of 11 nucleotides at nucleotide positions 301 to 311, causing a translational frameshift with a predicted alternate stop codon (p.I101Lfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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