ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.44_45del (p.Arg15fs)

dbSNP: rs1057524874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585370 SCV001819243 pathogenic not provided 2021-06-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Reported in an individual with juvenile-onset breast papillomatosis for whom other clinical history was not provided (Guillet et al., 2020); This variant is associated with the following publications: (PMID: 32088208, 27535533)
Ambry Genetics RCV003161143 SCV003864659 pathogenic Hereditary cancer-predisposing syndrome 2022-12-20 criteria provided, single submitter clinical testing The c.44_45delGA pathogenic mutation, located in coding exon 1 of the PTEN gene, results from a deletion of two nucleotides at nucleotide positions 44 to 45, causing a translational frameshift with a predicted alternate stop codon (p.R15Ifs*28). This alteration has been observed in the somatic state in an individual with a personal history of juvenile papillomatosis (Guillet C et al. Hum Pathol, 2020 Apr;98:64-73). 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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