ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2252C>T (p.Thr751Ile) (rs398122743)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165229 SCV000215943 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Color RCV000165229 SCV000906036 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing
Invitae RCV000704300 SCV000833244 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 751 of the BRCA2 protein (p.Thr751Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91772). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Sharing Clinical Reports Project (SCRP) RCV000077680 SCV000109483 uncertain significance Breast-ovarian cancer, familial 2 2011-03-09 no assertion criteria provided clinical testing

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