ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser)

gnomAD frequency: 0.00005  dbSNP: rs1455462308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554862 SCV000627087 uncertain significance Acute myeloid leukemia 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 102 of the CEBPA protein (p.Gly102Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456677). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002257787 SCV002531732 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-09 criteria provided, single submitter curation
GeneDx RCV003329293 SCV004036909 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with acute myeloid leukemia (Szankasi et al., 2011); This variant is associated with the following publications: (PMID: 20970189)
Baylor Genetics RCV000554862 SCV004212553 uncertain significance Acute myeloid leukemia 2023-09-13 criteria provided, single submitter clinical testing

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