ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)

dbSNP: rs876658302
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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 RCV000569863 SCV000661745 pathogenic Hereditary cancer-predisposing syndrome 2016-06-07 criteria provided, single submitter clinical testing The c.1197dupT pathogenic mutation, located in coding exon 10 of the CHEK2 gene, results from a duplication of T at nucleotide position 1197, causing a translational frameshift with a predicted alternate stop codon (p.G400Wfs*6). 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. RCV003335490 SCV004045182 pathogenic Familial cancer of breast 2023-06-28 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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