ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) (rs199616792)

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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 RCV000130314 SCV000185164 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000130314 SCV000909776 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000662628 SCV000785300 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000226321 SCV000290980 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 539 of the BRIP1 protein (p.Arg539Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (rs199616792, ExAC no frequency). This variant has been reported in the literature in an individual affected with breast cancer (PMID: 26976419). ClinVar contains an entry for this variant (Variation ID: 141698). 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. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709547 SCV000839379 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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