ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8419-16_8419-13delTATT (rs774275044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771183 SCV000903143 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000485799 SCV000569084 uncertain significance not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is denoted ATM c.8419-16_8419-13delTATT or IVS57-16_IVS57-13delTATT and consists of a deletion of four nucleotides at the -16 to -13 position of intron 57. The normal sequence, with the bases that are deleted in brackets, is tata[deltatt]ctct. In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.8419-16_8419-13delTATT was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available information, it is unclear whether ATM c.8419-16_8419-13delTATT is pathogenic or benign. We consider it to be a variant of uncertain significance.

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