ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.360A>C (p.Ala120=) (rs759485888)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000225789 SCV000840492 likely benign PTEN hamartoma tumor syndrome 2016-12-14 reviewed by expert panel curation PTEN c.360A>C (p.A120=) 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). 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.
GeneDx RCV000169819 SCV000222139 benign not specified 2014-08-18 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 RCV000858978 SCV000284589 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564129 SCV000666984 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000564129 SCV000686288 likely benign Hereditary cancer-predisposing syndrome 2017-03-22 criteria provided, single submitter clinical testing

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