ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1189A>C (p.Asn397His) (rs587782039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130499 SCV000185368 uncertain significance Hereditary cancer-predisposing syndrome 2014-01-02 criteria provided, single submitter clinical testing
Invitae RCV000457387 SCV000547277 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2016-06-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 397 of the BRIP1 protein (p.Asn397His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 141827). 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.

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