ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)

dbSNP: rs876660783
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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 RCV000215411 SCV000278473 pathogenic Hereditary cancer-predisposing syndrome 2021-02-19 criteria provided, single submitter clinical testing The c.3617_3621delTAGAAinsG pathogenic mutation, located in coding exon 24 of the ATM gene, results from the deletion of 5 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.L1206Wfs*8). 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.
Myriad Genetics, Inc. RCV004020696 SCV004931416 pathogenic Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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