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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