ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) (rs1601715865)

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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 RCV001011667 SCV001172014 pathogenic Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing The c.1455dupG pathogenic mutation, located in coding exon 12 of the CHEK2 gene, results from a duplication of G at nucleotide position 1455, causing a translational frameshift with a predicted alternate stop codon (p.L486Afs*4). 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 RCV001030620 SCV001193554 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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