ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) (rs144784912)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735579 SCV000219372 uncertain significance Breast and/or ovarian cancer 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000204206 SCV000261302 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-08-18 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 2006 of the BRCA2 protein (p.Ser2006Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs144784912, ExAC 0.003%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 188433). 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 RCV000239063 SCV000296556 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570534 SCV000661207 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000570534 SCV000688960 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735579 SCV000863717 benign Breast and/or ovarian cancer 2014-06-02 no assertion criteria provided clinical testing

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