ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5005+19C>G (rs1064794787)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584136 SCV000687598 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000481696 SCV000569939 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing This variant is denoted ATM c.5005+19C>G or IVS33+19C>G and consists of a C>G nucleotide substitution at the +19 position of intron 33 of the ATM gene. Multiple in silico models predict this variant to create a cryptic splice donor site and possibly causing 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.5005+19C>G was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The cytosine (C) nucleotide that is altered is not conserved. Based on currently available evidence, it is unclear whether ATM c.5005+19C>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.