ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3475del (p.Ala1159fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003585839 SCV004362444 pathogenic Hereditary cancer-predisposing syndrome 2022-08-01 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 24 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with early onset breast cancer in the literature (PMID: 34917121). This variant has been identified in 1/251348 chromosomes 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.
Myriad Genetics, Inc. RCV004371478 SCV004931738 pathogenic Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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