ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) (rs80359083)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165807 SCV000216554 likely pathogenic Hereditary cancer-predisposing syndrome 2018-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Structural Evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031740 SCV000147350 uncertain significance Breast-ovarian cancer, familial 2 2000-07-07 no assertion criteria provided clinical testing
Color RCV000165807 SCV000689121 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV000045500 SCV000073513 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 2793 of the BRCA2 protein (p.Gly2793Glu). 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38157). Experimental studies have shown that this missense change disrupts BRCA2 homology-directed DNA break repair activity in cultured cells (PMID: 23108138, 29394989). The p.Gly2793 amino acid residue in BRCA2 has been determined to be clinically significant (PMID: 12442275, 15889636, 16030099, 19043619, 23233716, 23108138, 25085752, 25777348). This suggests that variants that disrupt this residue are likely to be causative of disease. 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.
PreventionGenetics RCV000679191 SCV000805777 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031740 SCV000054347 uncertain significance Breast-ovarian cancer, familial 2 2010-07-08 no assertion criteria provided clinical testing

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