ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.42del (p.Arg15fs)

dbSNP: rs786202786
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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 RCV000165773 SCV000216518 pathogenic Hereditary cancer-predisposing syndrome 2023-03-02 criteria provided, single submitter clinical testing The c.42delG pathogenic mutation, located in coding exon 1 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 42, causing a translational frameshift with a predicted alternate stop codon (p.R14Rfs*10). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with PTEN-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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