ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.762dup (p.Lys255fs)

dbSNP: rs1131691044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492222 SCV000581177 pathogenic Hereditary cancer-predisposing syndrome 2016-04-12 criteria provided, single submitter clinical testing The c.762dupG pathogenic mutation, located in coding exon 5 of the CHEK2 gene, results from a duplication of G at nucleotide position 762, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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