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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