ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4612-2A>C

dbSNP: rs1555100347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667617 SCV000792096 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004555872 SCV004167594 uncertain significance Lung cancer 2023-11-20 criteria provided, single submitter clinical testing This variant in ATM was detected in the blood DNA as heterozygote in a NSCLC patient. Whole exome RNA sequencing analysis conducted on a metastasized tumor specimen extracted from a non-small cell lung cancer patient, featuring 40-50% tumor content, reveals sequencing reads skipping exon 32, with an in-frame fusion of exon 31 and exon 33 providing compelling evidence for Exon Skipping event due to the germline splice acceptor variant ATM c.4612-2A>C. Therefore, we categorize this splice acceptor variant ATM c.4612-2A>C, p.? as a splice variant of uncertain significance, denoted as Class 3.
Myriad Genetics, Inc. RCV004026097 SCV004930693 likely pathogenic Familial cancer of breast 2024-02-26 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV004764796 SCV005374687 uncertain significance Hereditary breast ovarian cancer syndrome 2024-02-15 criteria provided, single submitter curation According to the ClinGen ACMG ATM v1.1.0 criteria we chose these criteria: PVS1 (strong pathogenic): VCEP ATM 1.1 PVS1_str - list B, PM2 (supporting pathogenic): not found in gnomAD

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