ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)

dbSNP: rs2135237416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805608 SCV002053552 pathogenic Hereditary cancer-predisposing syndrome 2025-02-03 criteria provided, single submitter clinical testing This variant replaces 4 nucleotides in exon 13 of the ATM gene with 3 new nucleotides, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. A variant with a similar impact, c.687delA, has been reported in an individual affected with familial breast cancer with three or more affected family members, including at least two diagnosed with breast cancer before age 50 years (PMID: 12810666). 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.
Myriad Genetics, Inc. RCV004040917 SCV004930746 pathogenic Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV001805608 SCV005518127 pathogenic Hereditary cancer-predisposing syndrome 2024-11-25 criteria provided, single submitter clinical testing The c.684_687delTCTAinsCCT pathogenic mutation, located in coding exon 6 of the ATM gene, results from the deletion of 4 nucleotides and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.N230Ifs*4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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