ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)

dbSNP: rs1591387609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018795 SCV001180072 pathogenic Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing The c.9079_9080delAG pathogenic mutation, located in coding exon 62 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 9079 to 9080, causing a translational frameshift with a predicted alternate stop codon (p.S3027Cfs*35). This frameshift occurs near the 3' terminus of ATM and results in the elongation of the protein by 5 amino acids. This mutation alters the sequence of the FATC domain of the ATM protein which has been shown to be necessary for ATM regulation (Jiang XJ et al. Biol. Chem. 2006 Jun;281(23):15741-6). As such, this alteration is interpreted as a disease-causing mutation.

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