ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6128dup (p.Lys2044fs)

dbSNP: rs1591778765
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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 RCV001024918 SCV001187013 pathogenic Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing The c.6128dupG pathogenic mutation, located in coding exon 41 of the ATM gene, results from a duplication of G at nucleotide position 6128, causing a translational frameshift with a predicted alternate stop codon (p.K2044Qfs*7). 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.
Baylor Genetics RCV003461402 SCV004216248 likely pathogenic Familial cancer of breast 2020-12-04 criteria provided, single submitter clinical testing

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