ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.457G>A (p.Asp153Asn) (rs9651492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462562 SCV000541610 uncertain significance PTEN hamartoma tumor syndrome 2016-11-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 153 of the PTEN protein (p.Asp153Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with breast cancer and it is unclear if this variant was also observed in unaffected control individuals (PMID: 22320991). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population database and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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