ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1027-2A>C (rs1085308041)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506504 SCV000604981 pathogenic not specified 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV001214733 SCV001386433 pathogenic PTEN hamartoma tumor syndrome 2019-08-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor 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 several individuals affected with PTEN-related conditions (PMID: 21194675, 21659347, 28526761, 11052475, 27477328, 19265751, 19968660, Invitae). ClinVar contains an entry for this variant (Variation ID: 427624). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 28677221). For these reasons, this variant has been classified as Pathogenic.
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000516120 SCV000579245 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.