ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4703A>G (p.Lys1568Arg) (rs80358699)

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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 RCV000213170 SCV000278699 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000256034 SCV000321463 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4703A>G at the cDNA level, p.Lys1568Arg (K1568R) at the protein level, and results in the change of a Lysine to an Arginine (AAG>AGG). Using alternate nomenclature, this variant would be defined as BRCA2 4931A>G. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA2 Lys1568Arg was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). While protein-based in silico analysis supports that this variant does not alter protein structure/function, splicing models predict the creation of a novel splice site.? However, in the absence of RNA or functional studies, the actual effect of this variant is unknown.? Based on currently available evidence, it is unclear whether BRCA2 Lys1568Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000213170 SCV000903476 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113334 SCV000146472 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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