ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)

gnomAD frequency: 0.00001  dbSNP: rs1415169403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686373 SCV000813890 uncertain significance Acute myeloid leukemia 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 4 of the CEBPA protein (p.Ala4Ser). This variant is not present in population databases (gnomAD no frequency). 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: 566536). 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.
Genetic Services Laboratory, University of Chicago RCV003151135 SCV003839335 uncertain significance not specified 2022-12-14 no assertion criteria provided clinical testing DNA sequence analysis of the CEBPA gene demonstrated a sequence change, c.10G>T, in exon 1 that results in an amino acid change, p.Ala4Ser. This sequence change does not appear to have been previously described in individuals with CEBPA-related disorders and has also not been described in population databases such as ExAC and gnomAD (dbSNP rs1415169403). The p.Ala4Ser change affects a moderately conserved amino acid residue located in a domain of the CEBPA protein that is known to be functional. The p.Ala4Ser substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Ala4Ser change remains unknown at this time.

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