ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) (rs80359097)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045529 SCV000073542 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 283 of the BRCA2 protein (p.Ile283Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast and/or ovarian cancer (PMID: 23635950). ClinVar contains an entry for this variant (Variation ID: 52598). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000077440 SCV000195954 likely benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164639 SCV000215303 likely benign Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000045529 SCV000257620 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077440 SCV000109238 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077440 SCV000145779 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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