ClinVar Miner

Submissions for variant NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) (rs535980233)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232039 SCV000288512 likely benign Acute myeloid leukemia 2020-12-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500455 SCV000593996 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000232039 SCV000890953 likely benign Acute myeloid leukemia 2020-09-10 criteria provided, single submitter clinical testing The c.667G>A (p.Gly223Ser) missense variant has a frequency of 0.0004189 (58 of 138,460 alleles) in gnomAD v3 with a maximal allele frequency of 0.004221 (56 of 13,266) in the Latino subpopulation (http://gnomad.broadinstitute.org). This exceeds the prevalence of a pathogenic variant causing CEBPA-associated familial acute myeloid leukemia (BS1, PMID: 20963938). Five of six in silico tools predict a benign effect of this variant on protein function (BP4). To our knowledge, this variant has not been reported in cases of familial acute myeloid leukemia (internal data and literature review). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: BS1, BP4.
Fulgent Genetics,Fulgent Genetics RCV000232039 SCV000896723 uncertain significance Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing

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