ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3419del (p.Asn1140fs)

dbSNP: rs1555091141
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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 RCV000575572 SCV000668031 pathogenic Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing The c.3419delA pathogenic mutation, located in coding exon 23 of the ATM gene, results from a deletion of one nucleotide at position 3419, causing a translational frameshift with a predicted alternate stop codon (p.N1140Tfs*16). 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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