ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.242dup (p.Asn81fs)

dbSNP: rs1591451795
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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 RCV001015504 SCV001176344 pathogenic Hereditary cancer-predisposing syndrome 2018-12-28 criteria provided, single submitter clinical testing The c.242dupA pathogenic mutation, located in coding exon 3 of the ATM gene, results from a duplication of A at nucleotide position 242, causing a translational frameshift with a predicted alternate stop codon (p.N81Kfs*19). 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030451 SCV001193463 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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