Submissions for variant NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)

dbSNP: rs2145951132

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV002247755	SCV002516020	pathogenic	Hereditary breast ovarian cancer syndrome	2022-05-24	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003336509	SCV004044970	pathogenic	Familial cancer of breast	2023-06-26	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003336509	SCV005797162	pathogenic	Familial cancer of breast	2024-05-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys244*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1684663). For these reasons, this variant has been classified as Pathogenic.