ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) (rs150503164)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115239 SCV000185041 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000115239 SCV000910893 likely benign Hereditary cancer-predisposing syndrome 2015-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000212056 SCV000149148 uncertain significance not provided 2018-11-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.6998C>A at the cDNA level, p.Thr2333Lys (T2333K) at the protein level, and results in the change of a Threonine to a Lysine (ACA>AAA). ATM Thr2333Lys has been observed in an individual reported to have Ataxia-telangiectasia who was found to harbor two additional ATM variants; phase was not reported (Micol 2011). In addition, this variant was reported in at least one individual with pancreatic cancer, but also in a control individual in a breast cancer case-control meta-analysis (Tavtigian 2009, Puri 2014). ATM Thr2333Lys was observed at an allele frequency of 0.125% (30/24026) in individuals of African ancestry in large population cohorts (Lek 2016). ATM Thr2333Lys is located in the FAT domain (Stracker 2013). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Thr2333Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000197163 SCV000254140 likely benign Ataxia-telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing

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