ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5344C>A (p.Gln1782Lys) (rs80358757)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044636 SCV000072649 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 1782 of the BRCA2 protein (p.Gln1782Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant occurs with a pathogenic variant in BRCA2 in individuals in the Breast Cancer Information Core database (PMID: 10923033) and in the literature (PMID: 15728167). While it is unknown if these variants are on the same or opposite chromosomes, these observations suggest that the c.5344C>A variant is not a primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 51841). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The lysine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV000132498 SCV000187592 likely benign Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Counsyl RCV000113421 SCV000489074 uncertain significance Breast-ovarian cancer, familial 2 2016-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000421612 SCV000520027 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000132498 SCV000906917 likely benign Hereditary cancer-predisposing syndrome 2018-10-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113421 SCV000146598 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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