ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2071-1G>A (rs786201965)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222103 SCV000274622 likely pathogenic Hereditary cancer-predisposing syndrome 2019-09-03 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000217514 SCV000279298 likely pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing This variant is denoted NBN c.2071-1G>A or IVS13-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 13 of the NBN gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. Based on the currently available information, we consider NBN c.2071-1G>A to be a likely pathogenic variant.
Invitae RCV000543979 SCV000634273 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-12-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the NBN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 230924). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Color RCV000222103 SCV000685751 likely pathogenic Hereditary cancer-predisposing syndrome 2018-06-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000543979 SCV000697959 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2015-09-16 criteria provided, single submitter clinical testing

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