ClinVar Miner

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

dbSNP: rs1064795623
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Total submissions: 5
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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 likely benign Hereditary cancer-predisposing syndrome 2023-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000567682 SCV000687360 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042707 SCV001206407 likely benign Ataxia-telangiectasia syndrome 2022-03-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591429 SCV005085805 likely benign Familial cancer of breast 2024-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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