ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7307+4A>G (rs730881316)

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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 RCV000159649 SCV000217508 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000212061 SCV000209639 uncertain significance not provided 2014-08-21 criteria provided, single submitter clinical testing This variant is denoted ATM c.7307+4A>G or IVS49+4A>G and consists of an A>G nucleotide substitution at the +4 position of intron 49 of the ATM gene. Multiple in silico models predict this variant to weaken the nearby natural donor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.7307+4 A>G 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 adenine (A) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether ATM c.7307+4 A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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