ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1104T>C (p.Asp368=) (rs35979531)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162364 SCV000212670 likely benign Hereditary cancer-predisposing syndrome 2014-09-23 criteria provided, single submitter clinical testing
ClinGen PTEN Variant Curation Expert Panel RCV000232250 SCV000840471 likely benign PTEN hamartoma tumor syndrome 2016-09-14 reviewed by expert panel curation PTEN c.1104T>C (p.D368=) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). BS1: Allele frequency of 0.0057 (0.57%, 130/22,966 alleles) in the African subpopulation of the gnomAD cohort. (PMID 27535533) BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Color RCV000162364 SCV000537476 likely benign Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153792 SCV000203370 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000153792 SCV000171227 benign not specified 2014-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000232250 SCV000365741 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232250 SCV000284582 benign PTEN hamartoma tumor syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153792 SCV000303569 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000153792 SCV000602110 likely benign not specified 2017-05-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759324 SCV000888579 likely benign not provided 2017-05-13 criteria provided, single submitter clinical testing

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.