ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6876A>G (p.Glu2292=) (rs876660897)

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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 RCV000223045 SCV000278690 likely benign Hereditary cancer-predisposing syndrome 2015-09-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495542 SCV000578946 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000217461 SCV000279358 uncertain significance not provided 2016-03-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6876A>G at the DNA level. This variant is silent at the coding level, preserving a Glutamic Acid at codon 2292. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.6876A>G 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. The nucleotide which is altered, an adenine (A) at base 6876, is conserved across species. Based on currently available information, it is unclear whether BRCA2 c.6876A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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