ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8545A>G (p.Lys2849Glu) (rs80359109)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162806 SCV000213287 uncertain significance Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000077445 SCV000147398 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000162806 SCV000903961 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000827098 SCV000968715 likely benign not provided 2018-04-23 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.
Invitae RCV000045552 SCV000073565 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 2849 of the BRCA2 protein (p.Lys2849Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). However, in one of these individuals a pathogenic allele was also identified in BRCA1, which suggests that this c.8545A>G variant was not the primary cause of disease.  ClinVar contains an entry for this variant (Variation ID: 52617). Experimental studies have shown that this missense change does not have a significant effect on the homology directed repair activity of BRCA2 (PMID: 29884841). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508013 SCV000600813 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077445 SCV000109243 uncertain significance Breast-ovarian cancer, familial 2 2012-05-12 no assertion criteria provided clinical testing

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