ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8739C>G (p.Asp2913Glu) (rs786201996)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164571 SCV000215229 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238725 SCV000296540 uncertain significance Breast-ovarian cancer, familial 2 2016-04-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768610 SCV000324852 uncertain significance Breast and/or ovarian cancer 2015-11-19 criteria provided, single submitter clinical testing
Color RCV000164571 SCV000689148 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-26 criteria provided, single submitter clinical testing
Invitae RCV000257980 SCV000812742 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 2913 of the BRCA2 protein (p.Asp2913Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast cancer (PMID: 14955690). ClinVar contains an entry for this variant (Variation ID: 185201). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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