ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6331A>G (p.Lys2111Glu) (rs773211804)

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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 RCV000221895 SCV000273935 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000466720 SCV000549484 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 2111 of the BRCA2 protein (p.Lys2111Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs773211804, ExAC 0.009%). This variant has been reported in an individual affected with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 230397). 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 glutamic acid amino acid residue is 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, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000663128 SCV000786264 uncertain significance Breast-ovarian cancer, familial 2 2018-03-28 criteria provided, single submitter clinical testing
Color RCV000221895 SCV000906134 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing

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