ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8851-3T>C

dbSNP: rs748874219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805266 SCV002052093 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869532 SCV002162292 uncertain significance Ataxia-telangiectasia syndrome 2023-06-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1332220). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs748874219, gnomAD 0.006%). This sequence change falls in intron 61 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV001805266 SCV002683911 likely benign Hereditary cancer-predisposing syndrome 2020-02-07 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. RCV004591577 SCV005084687 likely benign Familial cancer of breast 2024-06-21 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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