ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8419-16_8419-13del

gnomAD frequency: 0.00003  dbSNP: rs774275044
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485799 SCV000569084 uncertain significance not provided 2024-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV000771183 SCV000903143 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063724 SCV002480541 likely benign Ataxia-telangiectasia syndrome 2025-02-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465684 SCV002760704 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551585 SCV004116551 uncertain significance ATM-related disorder 2022-10-18 criteria provided, single submitter clinical testing The ATM c.8419-16_8419-13delTATT variant is predicted to result in an intronic deletion. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0084% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-108216453-ATATT-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Myriad Genetics, Inc. RCV004591420 SCV005084007 likely benign Familial cancer of breast 2024-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005355943 SCV005911818 uncertain significance Familial colorectal cancer type X 2022-08-31 criteria provided, single submitter clinical testing

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