ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1195G>A (p.Glu399Lys) (rs587782816)

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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 RCV000132388 SCV000187480 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000228302 SCV000290972 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 399 of the BRIP1 protein (p.Glu399Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs587782816, ExAC <0.01%) but has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 142915). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on 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 RCV000411467 SCV000489937 uncertain significance Fanconi anemia, complementation group J 2016-08-16 criteria provided, single submitter clinical testing
Counsyl RCV000409044 SCV000489938 uncertain significance Neoplasm of ovary 2016-08-16 criteria provided, single submitter clinical testing
Color RCV000132388 SCV000537580 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing

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