ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8011-6T>G (rs762092284)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776130 SCV000911075 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000234012 SCV000789432 uncertain significance Ataxia-telangiectasia syndrome 2017-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000481088 SCV000572197 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing This variant is denoted ATM c.8011-6T>G or IVS54-6T>G and consists of a T>G nucleotide substitution at the -6 position of intron 54 of the ATM gene. Multiple in silico models predict this variant to damage the natural splice acceptor site of intron 54 and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has been observed in at least one individual with endometrial cancer undergoing multigene panel testing (Ring 2016). ATM c.8011-6T>G 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. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available evidence, it is unclear whether ATM c.8011-6T>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000234012 SCV000283069 likely benign Ataxia-telangiectasia syndrome 2017-10-17 criteria provided, single submitter clinical testing

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