ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1317A>G (p.Ile439Met) (rs28538230)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173760 SCV000149690 likely benign not specified 2017-10-23 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.
Ambry Genetics RCV000115781 SCV000186083 likely benign Hereditary cancer-predisposing syndrome 2018-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence,Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173760 SCV000224909 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing
Invitae RCV000198422 SCV000253385 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173760 SCV000601670 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587610 SCV000697945 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The NBN c.1317A>G (p.Ile439Met) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 47/121366 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.004519 (47/10400). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic NBN variant (0.0025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587610 SCV000889546 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Color RCV000115781 SCV000902680 benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing

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