ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2202A>G (p.Ala734=) (rs200452212)

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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 RCV000160775 SCV000213593 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing
Color RCV000160775 SCV000685760 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000212757 SCV000211434 benign not specified 2014-09-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588410 SCV000697963 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The variant of interest affects a non-conserved nucleotide and results in a synonymous mutation. Mutation taster predicts the variant to be disease causing while 4/5 in silico tools via Alamut predict the variant not to have a significant impact on normal splicing. The variant was observed predominantly in the Non-Finnish European subcohort of the ExAC project at an allele frequency of 0.032% which does not exceed the maximal expected allele frequency of a disease causing NBN allele (0.25%). It was observed in a larynx cancer patient with multiple primary tumors, however without strong evidence for pathogenicity (Zilkowska_CanSci_2007). To our knowledge, studies assessing the impact the variant may have on NBN function were not published at the time of scoring. Clinical diagnostic laboratories classify variant as Likely benign/Benign via ClinVar (without evidence to independently evaluate). Due to the synonymous nature of the variant, it was classified as a VUS-possibly benign until more information becomes available.
Invitae RCV000123213 SCV000166518 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-27 criteria provided, single submitter clinical testing

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