ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.788T>C (p.Phe263Ser) (rs147626427)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115806 SCV000186194 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000115806 SCV000902826 likely benign Hereditary cancer-predisposing syndrome 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000656926 SCV000149715 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing This variant is denoted NBN c.788T>C at the cDNA level, p.Phe263Ser (F263S) at the protein level, and results in the change of a Phenylalanine to a Serine (TTT>TCT). This variant was observed in one individual undergoing cancer panel testing due to a personal and/or family history of breast and/or ovarian cancer (Castera 2014), as well as in an individual with a personal history of breast cancer (Tung 2015). This variant was also observed in a multi-ethnic breast cancer case/control study; however, no statistically significant association with breast cancer was identified after correcting for multiple comparisons (Haiman 2013). NBN Phe263Ser was observed at an allele frequency of 0.22% (52/24,032) in individuals of African ancestry in large population cohorts (Lek 2016). This variant is located in the BRCT2 domain (Damiola 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether NBN Phe263Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000212737 SCV000595916 uncertain significance not specified 2016-04-27 criteria provided, single submitter clinical testing
Invitae RCV000199794 SCV000254780 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-28 criteria provided, single submitter clinical testing
Mendelics RCV000199794 SCV000838308 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000656926 SCV000806452 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing

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