ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3845C>T (p.Thr1282Ile) (rs1555283423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624982 SCV000743290 likely benign Breast-ovarian cancer, familial 2 2015-01-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624982 SCV000744445 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000692781 SCV000820624 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1282 of the BRCA2 protein (p.Thr1282Ile). 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 been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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.

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