ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.159A>G (p.Val53=) (rs189583426)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163129 SCV000213641 likely benign Hereditary cancer-predisposing syndrome 2015-05-16 criteria provided, single submitter clinical testing
Invitae RCV000551843 SCV000645551 uncertain significance PTEN hamartoma tumor syndrome 2017-04-24 criteria provided, single submitter clinical testing This sequence change affects codon 53 of the PTEN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PTEN protein. This variant is present in population databases (rs189583426, ExAC 0.02%) but has not been reported in the literature in individuals with a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 184020). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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