ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1398-17T>G (rs561077201)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773151 SCV000906676 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000480010 SCV000569732 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing This variant is denoted NBN c.1398-17T>G or IVS10-17T>G and consists of a T>G nucleotide substitution at the -17 position of intron 10 of the NBN gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NBN c.1398-17T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether NBN c.1398-17T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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