ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6176G>A (p.Ser2059Asn) (rs587780657)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131374 SCV000186350 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign)
Color RCV000131374 SCV000906131 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000122921 SCV000166179 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2059 of the BRCA2 protein (p.Ser2059Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs587780657, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 28503720). ClinVar contains an entry for this variant (Variation ID: 135808). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV000239311 SCV000296548 uncertain significance Breast-ovarian cancer, familial 2 2016-03-31 criteria provided, single submitter clinical testing

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