ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7983T>C (p.Asp2661=) (rs143972422)

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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 RCV000163374 SCV000213914 likely benign Hereditary cancer-predisposing syndrome 2015-01-21 criteria provided, single submitter clinical testing
Color RCV000163374 SCV000537478 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000442969 SCV000517307 benign not specified 2015-06-03 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 RCV000590681 SCV000694366 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 5/5 in silico tools via Alamut predict the variant not to have a significant impact on normal splicing. The variant was observed exclusively in the Non-Finnish European subcohort of the ExAC project at an allele frequency of 0.018% which does not exceed the maximal expected allele frequency of a disease causing NBN allele (0.4%). It was observed in a breast cancer patient, however without strong evidence for pathogenicity (Bernstein_HumMut_2010). 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 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 RCV000199625 SCV000252985 likely benign Ataxia-telangiectasia syndrome 2017-12-27 criteria provided, single submitter clinical testing

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