ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) (rs76635144)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130425 SCV000185289 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other strong data supporting benign classification,In silico models in agreement (benign)
Color RCV000130425 SCV000903016 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000425781 SCV000518147 likely benign not specified 2016-05-26 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.
Invitae RCV000197376 SCV000254229 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 3329 of the BRCA2 protein (p.Asn3329Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs76635144, ExAC 0.006%). This variant has been observed in individuals affected with prostate cancer and breast and/or ovarian cancer (PMID: 21952622, 30254663). ClinVar contains an entry for this variant (Variation ID: 141780). 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 serine 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.
Mendelics RCV000197376 SCV000838915 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425781 SCV000600886 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing

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