ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8399A>C (p.Gln2800Pro) (rs879254273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572446 SCV000668082 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
GeneDx RCV000235330 SCV000294034 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing This variant is denoted ATM c.8399A>C at the cDNA level, p.Gln2800Pro (Q2800P) at the protein level, and results in the change of a Glutamine to a Proline (CAG>CCG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Gln2800Pro 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. Since Glutamine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Gln2800Pro occurs at a position that is not conserved and is located in the PI3-PI4 kinase domain (Tavitigian 2009, Stracker 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether ATM Gln2800Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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