ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1825C>G (p.Gln609Glu) (rs80358472)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507323 SCV000602812 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130263 SCV000185107 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000112982 SCV000145959 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000130263 SCV000688727 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing
Invitae RCV000043902 SCV000071915 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 609 of the BRCA2 protein (p.Gln609Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs80358472, ExAC 0.01%). This variant has been reported in individuals affected with breast cancer and an unaffected control individual (PMID: 18627636, 17972177, 28222693). This variant is also known as 2053C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 51208). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000112982 SCV000297505 uncertain significance Breast-ovarian cancer, familial 2 2011-05-24 no assertion criteria provided clinical testing

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