ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3365A>G (p.Asn1122Ser) (rs745863765)

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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 RCV000219389 SCV000274896 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
GeneDx RCV000478505 SCV000569271 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.3365A>G at the cDNA level, p.Asn1122Ser (N1122S) at the protein level, and results in the change of an Asparagine to a Serine (AAT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Asn1122Ser 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 Asparagine and Serine share similar properties, this is considered a conservative amino acid substitution. ATM Asn1122Ser occurs at a position where amino acids with properties similar to Asparagine are tolerated across species and is located in the beta-adaptin region of interaction (Tavtigian 2009). In silico analyses are inconsistent regarding the effect this variant may have on protein structure or function. Based on currently available evidence, it is unclear whether ATM Asn1122Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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