ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.858A>G (p.Gln286=) (rs145301478)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164514 SCV000215166 likely benign Hereditary cancer-predisposing syndrome 2014-05-29 criteria provided, single submitter clinical testing
Color RCV000164514 SCV000687844 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000606983 SCV000728981 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000468266 SCV000547141 uncertain significance Ataxia-telangiectasia syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change affects codon 286 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant is present in population databases (rs145301478, ExAC 0.02%) but has not been reported in the literature in individuals with an ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 185146). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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