ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.988+10G>A

gnomAD frequency: 0.00007  dbSNP: rs371410129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000935061 SCV001080800 likely benign Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2023-09-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000935061 SCV001468350 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2021-03-30 criteria provided, single submitter clinical testing IRF8 NM_002163.2 exon 7 c.988+10G>A: This variant has not been reported in the literature but is present in 0.008% (2/24744) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-85952419-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:757443). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003978097 SCV004787602 likely benign IRF8-related condition 2020-03-09 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).

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