ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn)

dbSNP: rs1565215008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812720 SCV000953043 uncertain significance Immunodeficiency, common variable, 10 2019-08-13 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Ser866 amino acid residue in NFKB2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 28472507, 28778864), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with common variable immune deficiency (PMID: 29921932). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 866 of the NFKB2 protein (p.Ser866Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.

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