ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1139G>T (p.Ser380Ile) (rs569696977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580380 SCV000684112 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758984 SCV000887975 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Invitae RCV000822100 SCV000962886 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-02 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 380 of the BRIP1 protein (p.Ser380Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs569696977, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRIP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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