ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)

dbSNP: rs2546930752
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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 RCV002330490 SCV002634310 pathogenic Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing The c.4660_4661insTTTTTATT pathogenic mutation, located in coding exon 30 of the ATM gene, results from an insertion of 8 nucleotides at position 4660, causing a translational frameshift with a predicted alternate stop codon (p.N1554Ifs*12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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