ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.390A>G (p.Gln130=) (rs146150499)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768028 SCV000898846 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2018-01-31 criteria provided, single submitter clinical testing NBN NM_002485.4 exon 4 p.Gln130= (c.390A>G): This variant has not been reported in the literature but is present in 4/111612 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs146150499). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000799906 SCV000939592 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2019-12-05 criteria provided, single submitter clinical testing This sequence change affects codon 130 of the NBN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NBN protein. This variant is present in population databases (rs146150499, ExAC 0.01%). This variant has not been reported in the literature in individuals with NBN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV001021414 SCV001183028 likely benign Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing
Color RCV001021414 SCV001340242 likely benign Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing

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