ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8438G>A (p.Gly2813Glu) (rs80359092)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045520 SCV000073533 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 2813 of the BRCA2 protein (p.Gly2813Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with a glioma (PMID: 26580448). ClinVar contains an entry for this variant (Variation ID: 52589). Experimental studies have shown that this missense change results in a protein that behaves similarly to the wild-type protein in a homology directed repair assay (PMID: 23108138, 29394989). 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 RCV000567212 SCV000668725 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence,Intact protein function observed in appropriate functional assay(s)
Counsyl RCV000113933 SCV000784967 uncertain significance Breast-ovarian cancer, familial 2 2017-02-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113933 SCV000147365 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing

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