ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1598C>T (p.Thr533Ile) (rs781763239)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166855 SCV000217670 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000166855 SCV000911747 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000662361 SCV000784747 uncertain significance Breast-ovarian cancer, familial 2 2018-02-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586858 SCV000694547 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV000804094 SCV000943988 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 533 of the BRCA2 protein (p.Thr533Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs781763239, ExAC 0.009%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 187157). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586858 SCV000888986 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing

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