ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)

dbSNP: rs1564568350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712879 SCV000843430 pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing
Human Genetics Bochum, Ruhr University Bochum RCV002463734 SCV002758629 likely pathogenic Global developmental delay 2022-02-17 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP
Myriad Genetics, Inc. RCV003453516 SCV004189686 pathogenic Cowden syndrome 1 2023-10-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Ambry Genetics RCV005260377 SCV005927137 pathogenic Hereditary cancer-predisposing syndrome 2025-02-12 criteria provided, single submitter clinical testing The c.885_886delAT pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a deletion of two nucleotides at nucleotide positions 885 to 886, causing a translational frameshift with a predicted alternate stop codon (p.C296*). 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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