ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2639-3T>C

gnomAD frequency: 0.00001  dbSNP: rs1410247657
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551479 SCV000622344 likely benign Ataxia-telangiectasia syndrome 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001683551 SCV001901351 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805140 SCV002052556 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-10 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the -3 position of intron 17 of the ATM gene. Splice site prediction tools suggest that this variant may not impact RNA splicing, although this prediction has not been confirmed in published RNA studies. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/251010 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.
Ambry Genetics RCV001805140 SCV002739691 likely benign Hereditary cancer-predisposing syndrome 2020-03-30 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.
Myriad Genetics, Inc. RCV004592466 SCV005082716 likely benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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