ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3952del (p.Val1318fs)

dbSNP: rs1591646354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813081 SCV000953419 pathogenic Ataxia-telangiectasia syndrome 2021-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1318Serfs*31) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002372287 SCV002624011 pathogenic Hereditary cancer-predisposing syndrome 2022-05-13 criteria provided, single submitter clinical testing The c.3952delG variant, located in coding exon 25 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3952, causing a translational frameshift with a predicted alternate stop codon (p.V1318Sfs*31). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150353 SCV003837735 likely pathogenic Breast and/or ovarian cancer 2021-10-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461215 SCV004213942 likely pathogenic Familial cancer of breast 2021-12-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003461215 SCV004932782 pathogenic Familial cancer of breast 2024-01-23 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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