ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4038del (p.Glu1346fs)

dbSNP: rs2546898032
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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 RCV002321190 SCV002626257 pathogenic Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter clinical testing The c.4038delG pathogenic mutation, located in coding exon 26 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4038, causing a translational frameshift with a predicted alternate stop codon (p.E1346Dfs*3). 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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