ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2377-15_2377-12delTTGT (rs730881298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776282 SCV000911567 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000159627 SCV000209614 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing This variant is denoted ATM c.2377-15_2377-12delTTGT or IVS15-15_IVS15-12delTTGT and consists of a deletion of four nucleotides at the -15 to -12 positions of intron 15 of the ATM gene. The normal sequence, with the bases that are deleted in brackets, is ttgt[delttgt]ctta. Multiple in silico models predict this variant to destroy the nearby natural acceptor site 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 not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.2377-15_2377-12delTTGT 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 nucleotides that are deleted are not conserved. Based on currently available information, it is unclear whether c.2377-15_2377-12delTTGT is pathogenic or benign. We consider it to be a variant of uncertain significance.

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