ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.720C>T (p.Tyr240=) (rs190070312)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV001078171 SCV001244246 likely benign PTEN hamartoma tumor syndrome 2019-11-22 reviewed by expert panel curation PTEN c.720C>T (p.Tyr240=) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). 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. BS1_P: Allele frequency of 0.00010 (0.010%, 13/129,168 alleles) in the European (non-Finnish) subpopulation of the gnomAD cohort. (PMID 27535533)
Ambry Genetics RCV000162736 SCV000213206 likely benign Hereditary cancer-predisposing syndrome 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV001078171 SCV000253239 likely benign PTEN hamartoma tumor syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410705 SCV000489633 likely benign Cowden syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000432297 SCV000515746 likely benign not specified 2017-07-10 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000432297 SCV000602125 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Color RCV000162736 SCV000686299 likely benign Hereditary cancer-predisposing syndrome 2015-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728608 SCV000856202 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing

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