ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)

dbSNP: rs2081575204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV001090191 SCV001245488 pathogenic Familial cancer of breast criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584834 SCV004361689 pathogenic Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 20 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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