ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg) (rs80359002)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212263 SCV000210445 uncertain significance not provided 2014-03-27 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7753G>A at the cDNA level, p.Gly2585Arg (G2585R) at the protein level, and results in the change of a Glycine to an Arginine (GGA>AGA). Using alternate nomenclature, this variant would be defined as BRCA2 7981G>A. This variant displayed reduced homologous recombination repair activity in a homology-directed DNA break repair assay (Guidugli 2013). BRCA2 Gly2585Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glycine and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Gly2585Arg occurs at a position that is conserved across species and is located in within the DNA binding domain (Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, we consider BRCA2 Gly2585Arg to be a likely pathogenic variant. significance.
Department of Medical Genetics,Oslo University Hospital RCV000113812 SCV000605692 likely pathogenic Breast-ovarian cancer, familial 2 2016-01-05 criteria provided, single submitter clinical testing
Color RCV000773272 SCV000906940 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-14 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113812 SCV000147171 uncertain significance Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing

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