ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.48A>G (p.Glu16=) (rs774768437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565561 SCV000660461 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000565561 SCV000904428 likely benign Hereditary cancer-predisposing syndrome 2018-04-18 criteria provided, single submitter clinical testing
Invitae RCV000457632 SCV000546756 uncertain significance Ataxia-telangiectasia syndrome 2016-07-28 criteria provided, single submitter clinical testing This sequence change affects codon 16 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 (rs774768437, ExAC <0.01%) but has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA 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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