ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.163del (p.Arg55fs)

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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 RCV004666846 SCV005158339 pathogenic Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The c.163delA pathogenic mutation, located in coding exon 2 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 163, causing a translational frameshift with a predicted alternate stop codon (p.R55Gfs*44). This variant was reported in 1/60,466 breast cancer cases and in 0/53,461 controls (Dorling et al. N Engl J Med 2021 02;384:428-439). 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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