ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3417G>A (p.Glu1139=) (rs879254069)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574519 SCV000660766 likely benign Hereditary cancer-predisposing syndrome 2017-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000236164 SCV000293357 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing This variant is denoted ATM c.3417G>A at the DNA level. This variant is silent at the coding level, preserving a Glutamic Acid at codon 1139. While one splicing model predicts loss of a weak nearby natural splice acceptor site, another predicts no splicing effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. ATM c.3417G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 3417, is not conserved. Based on currently available information, it is unclear whether ATM c.3417G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.

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