ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1676C>G (p.Thr559Arg) (rs876658266)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218161 SCV000273287 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000218161 SCV000904791 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV000232870 SCV000290982 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-04-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 559 of the BRIP1 protein (p.Thr559Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26921362). ClinVar contains an entry for this variant (Variation ID: 229916). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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