ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2072-3C>T

gnomAD frequency: 0.00121  dbSNP: rs201550645
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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 RCV000550910 SCV000654797 likely benign Immunodeficiency, common variable, 10 2025-01-26 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000550910 SCV002495865 uncertain significance Immunodeficiency, common variable, 10 2021-07-20 criteria provided, single submitter clinical testing NFKB2 NM_001077494.3 intron 18 c.2072-3C>T:This variant has not been reported in the literature but is present in 0.1% (113/68016) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-102401177-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:474780). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Computational prediction tools for splicing are unclear. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV003424142 SCV004127274 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing NFKB2: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000550910 SCV005878203 likely benign Immunodeficiency, common variable, 10 2024-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925698 SCV004739477 likely benign NFKB2-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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