Submissions for variant NM_000059.3(BRCA2):c.10171A>G (p.Ile3391Val) (rs778147500)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206136	SCV000262263	uncertain significance	Hereditary breast and ovarian cancer syndrome	2018-11-01	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with valine at codon 3391 of the BRCA2 protein (p.Ile3391Val). 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 221089). 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 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.
GeneDx	RCV000442780	SCV000518475	likely benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color	RCV000773224	SCV000906834	uncertain significance	Hereditary cancer-predisposing syndrome	2018-07-04	criteria provided, single submitter	clinical testing

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