ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)

dbSNP: rs767253467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570312 SCV000666381 pathogenic Hereditary cancer-predisposing syndrome 2021-01-20 criteria provided, single submitter clinical testing The p.S210* pathogenic mutation (also known as c.629C>G), located in coding exon 4 of the CHEK2 gene, results from a C to G substitution at nucleotide position 629. This changes the amino acid from a serine to a stop codon within coding exon 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.
Invitae RCV001858193 SCV002162790 pathogenic Familial cancer of breast 2021-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with breast cancer (PMID: 28724667). ClinVar contains an entry for this variant (Variation ID: 481728). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser210*) 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).
Myriad Genetics, Inc. RCV001858193 SCV004043453 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.

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