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

gnomAD frequency: 0.00121  dbSNP: rs201550645

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000550910	SCV000654797	likely benign	Immunodeficiency, common variable, 10	2024-01-29	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	2023-07-01	criteria provided, single submitter	clinical testing	NFKB2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003925698	SCV004739477	likely benign	NFKB2-related condition	2019-05-08	criteria provided, single submitter	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).