ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.78C>T (p.Thr26=) (rs786201280)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679314 SCV000884427 benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163228 SCV000213753 likely benign Hereditary cancer-predisposing syndrome 2014-09-29 criteria provided, single submitter clinical testing
ClinGen PTEN Variant Curation Expert Panel RCV000204337 SCV000840494 uncertain significance PTEN hamartoma tumor syndrome 2017-12-18 reviewed by expert panel curation PTEN c.78C>T (p.T26=) is currently classified as a variant of uncertain significance 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). PM2: Present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort. (PMID 27535533). BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Color RCV000163228 SCV000905155 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing
Counsyl RCV000662592 SCV000785221 uncertain significance Cowden syndrome 1 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000218577 SCV000279427 likely benign not specified 2017-12-28 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.
Invitae RCV000204337 SCV000262250 uncertain significance PTEN hamartoma tumor syndrome 2018-12-08 criteria provided, single submitter clinical testing This sequence change affects codon 26 of the PTEN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PTEN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 184104). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000204337 SCV000838415 uncertain significance PTEN hamartoma tumor syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679314 SCV000806064 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing

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