ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1026+2T>G (rs1114167624)

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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 RCV000491037 SCV000579970 pathogenic Hereditary cancer-predisposing syndrome 2013-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Invitae RCV000802995 SCV000942848 likely pathogenic PTEN hamartoma tumor syndrome 2018-11-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 8) of the PTEN gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with Cowden or Cowden-like syndrome (PMID: 28677221, 21194675). ClinVar contains an entry for this variant (Variation ID: 428197). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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