ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6115T>A (p.Leu2039Ile) (rs370026879)

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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 RCV000132514 SCV000187610 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000468278 SCV000549759 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-11-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 2039 of the BRCA2 protein (p.Leu2039Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 142997). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000663027 SCV000786055 uncertain significance Breast-ovarian cancer, familial 2 2018-02-12 criteria provided, single submitter clinical testing
Color RCV000132514 SCV000906655 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-31 criteria provided, single submitter clinical testing

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