ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) (rs80359187)

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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 RCV000130070 SCV000184897 likely pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 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,Functionally-validated splicing mutation,Structural Evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Breast Cancer Information Core (BIC) (BRCA2) RCV000114070 SCV000147573 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Invitae RCV000472340 SCV000549856 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 3076 of the BRCA2 protein (p.Gly3076Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 126203). Results of a homology-directed DNA break repair (HDR) assay have indicated that this missense change disrupts protein function when compared to wild-type BRCA2 (PMID: 23108138). In summary, this variant is a rare missense change that impairs protein function in vitro. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000114070 SCV000189321 uncertain significance Breast-ovarian cancer, familial 2 2011-03-07 no assertion criteria provided clinical testing

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