ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8482A>G (p.Ile2828Val) (rs80359098)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129626 SCV000184419 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113940 SCV000147372 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129626 SCV000911041 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Counsyl RCV000113940 SCV000786538 uncertain significance Breast-ovarian cancer, familial 2 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000045530 SCV000073543 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2828 of the BRCA2 protein (p.Ile2828Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs80359098, ExAC 0.002%). This variant has been reported in individuals affected with breast/ovarian cancer (PMID: 16826315, 21156238, 24916970). Segregation studies have not been reported for this variant. This variant is also known as c.8710A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 52599). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, general algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD), and an algorithm developed specifically for BRCA2 (PMID: 19043619), all suggest that this missense change is likely to be tolerated. 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.
Mendelics RCV000045530 SCV000838875 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507614 SCV000600807 uncertain significance not specified 2016-09-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113940 SCV000297568 uncertain significance Breast-ovarian cancer, familial 2 2011-08-22 no assertion criteria provided clinical testing

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