ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9501G>C (p.Glu3167Asp) (rs80359808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582949 SCV000689203 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000216268 SCV000279979 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9501G>C at the cDNA level, p.Glu3167Asp (E3167D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAG>GAC). Using alternate nomenclature, this variant would be defined as BRCA2 9729G>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Glu3167Asp 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 Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution. BRCA2 Glu3167Asp occurs at a position that is not conserved and is not located in a known functional domain (Cole 2011). While protein-based in silico analyses are inconsistent regarding the effect this variant may have on protein structure and function, multiple splicing models predict that this variant may damage the nearby natural splice donor site. Based on currently available evidence, it is unclear whether BRCA2 Glu3167Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238800 SCV000296552 uncertain significance Breast-ovarian cancer, familial 2 2016-03-19 criteria provided, single submitter clinical testing

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