ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3194T>C (p.Ile1065Thr) (rs431825303)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132329 SCV000187417 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000168025 SCV000218677 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-10-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1065 of the BRCA2 protein (p.Ile1065Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000082908 SCV000785752 uncertain significance Breast-ovarian cancer, familial 2 2017-11-20 criteria provided, single submitter clinical testing
Color RCV000132329 SCV000906061 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082908 SCV000114982 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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