ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4655G>T (p.Gly1552Val) (rs80358696)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113327 SCV000146462 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
GeneDx RCV000759620 SCV000616997 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4655G>T at the cDNA level, p.Gly1552Val (G1552V) at the protein level, and results in the change of a Glycine to a Valine (GGT>GTT). Using alternate nomenclature, this variant would be defined as BRCA2 4883G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gly1552Val was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Glycine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Gly1552Val occurs at a position that is not conserved across species and is located within the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Gly1552Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759620 SCV000889057 uncertain significance not provided 2017-12-17 criteria provided, single submitter clinical testing

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