ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)

dbSNP: rs780345232
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558465 SCV000627090 benign Acute myeloid leukemia 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256341 SCV002531734 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000558465 SCV002584697 uncertain significance Acute myeloid leukemia 2022-10-04 criteria provided, single submitter clinical testing The CEBPA c.308_313dup (p.Gly103_Gly104dup) change inserts six nucleotides at position 308-313 resulting in an in-frame duplication of two glycine residues. This variant has a maximum subpopulation frequency of 0.17% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/), however data at this position may not be reliable due to mean depth of coverage <30X. This variant has been reported in the literature in an individual with acute myeloid leukemia (PMID: 25468431). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
GeneDx RCV003235275 SCV003933044 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing In-frame insertion of 2 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004609425 SCV005105504 benign Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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