ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu) (rs28897749)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045444 SCV000073457 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2728 of the BRCA2 protein (p.Val2728Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs28897749, ExAC 0.001%). This variant has been reported in families affected with breast cancer (PMID: 12955716). ClinVar contains an entry for this variant (Variation ID: 52521). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The leucine 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, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000573475 SCV000668523 likely benign Hereditary cancer-predisposing syndrome 2018-12-28 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Color RCV000573475 SCV000906949 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113883 SCV000147294 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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