ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2125-4T>C (rs1064795623)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480304 SCV000571607 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing This variant is denoted ATM c.2125-4T>C or IVS13-4T>C and consists of a T>C nucleotide substitution at the -4 position of intron 13 of the ATM gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.2125-4T>C 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. In silico models are inconclusive with respect to splicing, but in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether ATM c.2125-4T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000567682 SCV000672684 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-11 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000567682 SCV000687360 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV001042707 SCV001206407 uncertain significance Ataxia-telangiectasia syndrome 2019-06-28 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 422199). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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