ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.736A>G (p.Ile246Val) (rs376893571)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580310 SCV000684301 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV000534123 SCV000633711 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 246 of the BRIP1 protein (p.Ile246Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs376893571, ExAC 0.1%). This variant has been reported in an individual affected with breast cancer (PMID: 28796317). ClinVar contains an entry for this variant (Variation ID: 461180). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759716 SCV000889225 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing

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