ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) (rs115321485)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131006 SCV000185932 benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224857 SCV000281644 likely benign not provided 2015-12-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000131006 SCV000685740 benign Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000212752 SCV000170642 benign not specified 2014-01-02 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.
Integrated Genetics/Laboratory Corporation of America RCV000224857 SCV000697957 likely benign not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The NBN c.1882G>A (p.Glu628Lys) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict benign outcome for this variant. This variant was found in 118/69680 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0185247 (111/5992). This frequency is about 148 times the estimated maximal expected allele frequency of a pathogenic NBN variant (0.000125), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has been reported in affected individuals via publications without strong evidence for causality. In one case-control study, it was not found to increase the risk of breast cancer (Haiman_2013). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, the variant of interest has been classified Likely Benign until additional information becomes available.
Invitae RCV000119113 SCV000153825 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212752 SCV000806420 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212752 SCV000601679 likely benign not specified 2017-03-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224857 SCV000888329 benign not provided 2018-04-26 criteria provided, single submitter clinical testing

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