ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)

dbSNP: rs876658266
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Total submissions: 4
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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 2024-05-03 criteria provided, single submitter clinical testing The p.T559R variant (also known as c.1676C>G), located in coding exon 11 of the BRIP1 gene, results from a C to G substitution at nucleotide position 1676. The threonine at codon 559 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000232870 SCV000290982 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 559 of the BRIP1 protein (p.Thr559Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 26921362). ClinVar contains an entry for this variant (Variation ID: 229916). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRIP1 protein function with a negative predictive value of 80%. 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.
Color Diagnostics, LLC DBA Color Health RCV000218161 SCV000904791 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485564 SCV004234880 uncertain significance Fanconi anemia complementation group J 2023-06-09 criteria provided, single submitter clinical testing

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