ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3776G>A (p.Ser1259Asn) (rs762488820)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700054 SCV000828792 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1259 of the BRCA2 protein (p.Ser1259Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs762488820, ExAC 0.009%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 438972). 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 asparagine 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506116 SCV000600563 uncertain significance not specified 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758886 SCV000887798 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing

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