ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7566A>G (p.Gln2522=)

gnomAD frequency: 0.00001  dbSNP: rs775621333
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206378 SCV000260869 likely benign Ataxia-telangiectasia syndrome 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000483209 SCV000565740 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in individuals with breast cancer, but also in unaffected controls (Chan 2018, Momozawa 2018); This variant is associated with the following publications: (PMID: 29338689, 30287823, 30093976)
Ambry Genetics RCV000574825 SCV000660454 likely benign Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000574825 SCV000904734 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-20 criteria provided, single submitter clinical testing This synonymous variant does not change the amino acid sequence of the ATM protein, but it causes an A to G substitution in exon 51 of the ATM gene. Splice site prediction tools suggest that this variant may create a new splice acceptor site, although this prediction has not been confirmed in published RNA studies. This variant has been reported in individuals affected with breast cancer (PMID: 30093976, 30287823) and in unaffected individuals (PMID: 30287823). This variant has been identified in 6/251308 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193662 SCV001362656 likely benign not specified 2019-10-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574825 SCV002538093 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589890 SCV005083730 likely benign Familial cancer of breast 2024-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Fulgent Genetics, Fulgent Genetics RCV005042444 SCV005680909 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-05-04 criteria provided, single submitter clinical testing

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