ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) (rs72563785)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128986 SCV000172876 benign Hereditary cancer-predisposing syndrome 2014-07-28 criteria provided, single submitter clinical testing
Color RCV000128986 SCV000685756 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000121615 SCV000170644 benign not specified 2013-10-23 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.
Genetic Services Laboratory, University of Chicago RCV000121615 SCV000595913 benign not specified 2015-08-19 criteria provided, single submitter clinical testing
ITMI RCV000121615 SCV000085813 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000168432 SCV000475286 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589914 SCV000697961 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.2146A>G variant affects a conserved nucleotide, resulting in amino acid change from Asn to Asp. 3/4 in-silico tools predict this variant to be benign. This variant is found in 295/121388 control chromosomes (including 5 homozygotes) at a frequency of 0.0024302. It was predominantly observed in the African subpopulation at a frequency of 2.7% including 5 homozygous occurrences. This frequency significantly exceeds the maximal expected allele frequency for a pathogenic variant in NBN (0.25%), suggesting this is a benign polymorphism found primarily in population(s) of African origin. In addition, multiple clinical laboratories have classified this variant as benign/likely benign. One internal sample with this variant also carried a deleterious variant PMS2 c.2186_2187delTC, supporting bening outcome. Taken together, this variant has been classified as Benign.
Invitae RCV000168432 SCV000219129 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121615 SCV000806429 benign not specified 2017-09-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121615 SCV000601685 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128986 SCV000788075 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing
Vantari Genetics RCV000128986 SCV000267062 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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