ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) (rs587781705)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129876 SCV000184693 pathogenic Hereditary cancer-predisposing syndrome 2019-01-22 criteria provided, single submitter clinical testing The p.Y72* pathogenic mutation (also known as c.216T>G), located in coding exon 1 of the CHEK2 gene, results from a T to G substitution at nucleotide position 216. This changes the amino acid from a tyrosine to a stop codon within coding exon 1. This mutation has been reported in a patient with renal cancer (Mandelker D et al. JAMA 2017 09;318(9):825-835). In addition to the clinical data presented in the literature, 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.
Fulgent Genetics,Fulgent Genetics RCV000763478 SCV000894260 pathogenic Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129876 SCV000911686 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV001247758 SCV001421199 pathogenic Familial cancer of breast 2020-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr72*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with renal cell carcinoma (PMID: 29978187). ClinVar contains an entry for this variant (Variation ID: 141381). Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.

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